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What are the symptoms of Hypersensitivity vasculitis ? | What are the signs and symptoms of Hypersensitivity vasculitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypersensitivity vasculitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of temperature regulation 90% Cutis marmorata 90% Gangrene 90% Myalgia 90% Skin ulcer 90% Subcutaneous hemorrhage 90% Urticaria 90% Vasculitis 90% Arthralgia 50% Skin rash 50% Abnormality of the oral cavity 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Neuroferritinopathy ? | Neuroferritinopathy is a movement disorder caused by the gradual accumulation of iron in the basal ganglia of the brain. People with neuroferritinopathy have progressive problems with movement that begin at about age 40. These movement problems can include involuntary jerking motions (chorea), rhythmic shaking (tremor), difficulty coordinating movements (ataxia), or uncontrolled tensing of muscles (dystonia). Symptoms of the disorder may be more prominent on one side of the body. Affected individuals may also have difficulty swallowing (dysphagia) and speaking (dysarthria). Intelligence is generally unaffected, but some individuals develop a gradual decline in thinking and reasoning abilities (dementia). Personality changes such as reduced inhibitions and difficulty controlling emotions may also occur as the disorder progresses. Neuroferritinopathy is caused by mutations in the FTL gene. It is inherited in an autosomal dominant fashion. | |
What are the symptoms of Neuroferritinopathy ? | What are the signs and symptoms of Neuroferritinopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuroferritinopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Chorea 90% Hypertonia 90% Incoordination 90% Abnormality of eye movement 50% Feeding difficulties in infancy 50% Gait disturbance 50% Constipation 7.5% Developmental regression 7.5% Hypotension 7.5% Neurological speech impairment 7.5% Reduced consciousness/confusion 7.5% Tremor 7.5% Anarthria - Ataxia - Autosomal dominant inheritance - Babinski sign - Blepharospasm - Bradykinesia - Cavitation of the basal ganglia - Choreoathetosis - Decreased serum ferritin - Dementia - Disinhibition - Dysarthria - Dysphagia - Emotional lability - Hyperreflexia - Laryngeal dystonia - Mutism - Neurodegeneration - Parkinsonism - Phenotypic variability - Progressive - Rigidity - Spasticity - Writer's cramp - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Emery-Dreifuss muscular dystrophy, X-linked ? | null | |
What are the symptoms of Emery-Dreifuss muscular dystrophy, X-linked ? | What are the signs and symptoms of Emery-Dreifuss muscular dystrophy, X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Emery-Dreifuss muscular dystrophy, X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the neck - Achilles tendon contracture - Atrioventricular block - Childhood onset - Decreased cervical spine flexion due to contractures of posterior cervical muscles - Elbow flexion contracture - Elevated serum creatine phosphokinase - Juvenile onset - Pectus excavatum - Primary atrial arrhythmia - Slow progression - Sudden cardiac death - Type 1 muscle fiber atrophy - Waddling gait - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Tetramelic monodactyly ? | What are the signs and symptoms of Tetramelic monodactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetramelic monodactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Split hand 90% Autosomal dominant inheritance - Monodactyly (feet) - Monodactyly (hands) - Split foot - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Spinocerebellar ataxia 11 ? | Spinocerebellar ataxia type 11 (SCA11) is characterized by progressive cerebellar ataxia (difficulty walking and balance) and abnormal eye signs (jerky pursuit, horizontal and vertical movements (nystagmus), pyramidal features (increased muscular tonus, increased reflexes and an abnormal reflex known as Babinski sign and inability to make to perform fine movements), peripheral neuropathy with numbness, weakness or pain in the feet or hands or other places of the body and dystonia. It is a very rare disease and very few patients have been reported to date. In them, age of onset ranged from the early teens to the second decade of life and life span was normal. Diagnosis is based on signs and symptoms and with a genetic exam showing an alteration (mutation) in the TTBK2 gene. It is inherited in an autosomal dominant manner. Treatment may include speech and language therapy for talking and swallowing problems, occupational therapy, including home adaptations, physiotherapy and use of assistive walking devices and ankle-foot orthotics (AFOs) for those with neuropathy. | |
What are the symptoms of Spinocerebellar ataxia 11 ? | What are the signs and symptoms of Spinocerebellar ataxia 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 11. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Autosomal dominant inheritance - Cerebellar atrophy - Dysarthria - Hyperreflexia - Nystagmus - Progressive cerebellar ataxia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
Is Spinocerebellar ataxia 11 inherited ? | How is spinocerebellar ataxia type 11 inherited? SCA11 is inherited in an autosomal dominant manner. The rate of de novo mutations is not known. Each child of an individual with SCA11 has a 50% chance of inheriting the mutation. Prenatal diagnosis for at-risk pregnancies is possible if the diagnosis has been confirmed by molecular genetic testing in a parent. Each child of an individual with SCA11 has a 50% chance of inheriting the mutation. Genetic testing of adults who do not have any symptoms but are at-risk of having inherited the mutation is possible. However, testing is not useful in predicting age of onset, severity, type of symptoms, or rate of progression in individuals who do not have any symptom. The affected family member should be tested first to confirm the molecular diagnosis in the family. The best person who can answer questions and address any concerns about inheritance questions is a genetic professional. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral. The following online resources can also help you find a genetics professional in your community: GeneTests offers a searchable directory of U.S. and international genetics and prenatal diagnosis clinics. https://www.genetests.org/clinics The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services. http://nsgc.org/p/cm/ld/fid=164 The American College of Medical Genetics has a searchable database of US genetics clinics. https://www.acmg.net/ACMG/Find_Genetic_Services/ACMG/ISGweb/FindaGeneticService.aspx?hkey=720856ab-a827-42fb-a788-b618b15079f9 The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments. http://www.kumc.edu/GEC/prof/genecntr.html The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care. http://www.ashg.org/pages/member_search.shtml The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Please see a list of laboratories offering the genetic test for spinocerebellar ataxia type 11. For detailed information on testing, inheritance and genetic counseling and a comprehensive review of spinocerebellar ataxia type 11 you can visit GeneReviews. GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. http://www.ncbi.nlm.nih.gov/books/NBK1757/ | |
What are the symptoms of Leber congenital amaurosis 1 ? | What are the signs and symptoms of Leber congenital amaurosis 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Blindness - Cataract - Decreased light- and dark-adapted electroretinogram amplitude - Eye poking - Fundus atrophy - Growth delay - Hepatomegaly - Hyperthreoninemia - Hyperthreoninuria - Intellectual disability - Keratoconus - Nystagmus - Photophobia - Pigmentary retinopathy - Reduced visual acuity - Sensorineural hearing impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Cone-rod dystrophy 2 ? | What are the signs and symptoms of Cone-rod dystrophy 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of color vision - Autosomal dominant inheritance - Blindness - Chorioretinal atrophy - Cone/cone-rod dystrophy - Constriction of peripheral visual field - Nyctalopia - Peripheral visual field loss - Reduced visual acuity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Carpotarsal osteochondromatosis ? | What are the signs and symptoms of Carpotarsal osteochondromatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Carpotarsal osteochondromatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the wrist 90% Multiple enchondromatosis 90% Tarsal synostosis 90% Autosomal dominant inheritance - Joint swelling - Osteochondroma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Laing distal myopathy ? | Laing distal myopathy is a slowly progressive muscle disorder that tends to begin in childhood. Early symptoms include weakness in the feet and ankles, followed by weakness in the hands and wrists. Weakness in the feet leads to tightening of the Achilles tendon, an inability to lift the big toe, and a high-stepping walk. Weakness in the hands makes it more difficult to lift the fingers, especially the third and fourth fingers. As the muscle weakness slowly progresses over the course of many years, other muscles of the body (e.g., neck, face, legs, hips, and shoulders) weaken. Most affected people remain mobile throughout life. Life expectancy is normal. Laing distal myopathy is caused by mutations in the MYH7 gene and is inherited in an autosomal dominant fashion. | |
What are the symptoms of Laing distal myopathy ? | What are the signs and symptoms of Laing distal myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Laing distal myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dilated cardiomyopathy 7.5% Proximal muscle weakness 7.5% Amyotrophy of ankle musculature - Autosomal dominant inheritance - Childhood onset - Distal muscle weakness - Elevated serum creatine phosphokinase - EMG: neuropathic changes - Facial palsy - Gait disturbance - High palate - Infantile onset - Mildly elevated creatine phosphokinase - Myalgia - Neck muscle weakness - Pes cavus - Phenotypic variability - Ragged-red muscle fibers - Scoliosis - Slow progression - Toe extensor amyotrophy - Type 1 muscle fiber predominance - Weakness of long finger extensor muscles - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Axenfeld-Rieger syndrome type 2 ? | Axenfeld-Rieger syndrome is a group of eye disorders that affects the development of the eye. Common eye symptoms include cornea defects, which is the clear covering on the front of the eye, and iris defects, which is the colored part of the eye. People with this syndrome may have an off-center pupil (corectopia) or extra holes in the eyes that can look like multiple pupils (polycoria). About 50% of people with this syndrome develop glaucoma, which is a serious condition that increases pressure inside of the eye. This may cause vision loss or blindness. Click here to view a diagram of the eye. Even though Axenfeld-Rieger syndrome is primarily an eye disorder, this syndrome is also associated with symptoms that affect other parts of the body. Most people with this syndrome have distinctive facial features and many have issues with their teeth, including unusually small teeth (microdontia) or fewer than normal teeth (oligodontia). Some people have extra folds of skin around their belly button, heart defects, or other more rare birth defects. There are three types of Axenfeld-Rieger syndrome and each has a different genetic cause. Axenfeld-Rieger syndrome type 1 is caused by spelling mistakes (mutations) in the PITX2 gene. Axenfeld-Rieger syndrome type 3 is caused by mutations in the FOXC1 gene. The gene that causes Axenfeld-Rieger syndrome type 2 is not known, but it is located on chromosome 13. Axenfeld-Rieger syndrome has an autosomal dominant pattern of inheritance. | |
What are the symptoms of Axenfeld-Rieger syndrome type 2 ? | What are the signs and symptoms of Axenfeld-Rieger syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Axenfeld-Rieger syndrome type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the anterior chamber 90% Aplasia/Hypoplasia of the iris 90% Posterior embryotoxon 90% Glaucoma 50% Hearing impairment 50% Malar flattening 50% Abnormality of the hypothalamus-pituitary axis 7.5% Cutis laxa 7.5% Depressed nasal bridge 7.5% Displacement of the external urethral meatus 7.5% Frontal bossing 7.5% Hypertelorism 7.5% Microdontia 7.5% Reduced number of teeth 7.5% Telecanthus 7.5% Urogenital fistula 7.5% Abnormality of cardiovascular system morphology - Anal stenosis - Anterior chamber synechiae - Autosomal dominant inheritance - Blindness - Cryptorchidism - Hydrocephalus - Hypodontia - Hypoplasia of the maxilla - Hypospadias - Inguinal hernia - Mandibular prognathia - Microcornea - Opacification of the corneal stroma - Short philtrum - Umbilical hernia - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Ausems Wittebol-Post Hennekam syndrome ? | What are the signs and symptoms of Ausems Wittebol-Post Hennekam syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ausems Wittebol-Post Hennekam syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Non-midline cleft lip 90% Abnormality of retinal pigmentation 50% Visual impairment 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Osteomesopyknosis ? | Osteomesopyknosis is a bone disorder characterized by abnormal hardening of bone (osteosclerosis). It is generally limited to the axial spine, pelvis, and proximal part of the long bones, which is what distinguishes this condition from other sclerosing bone disorders. It is usually diagnosed incidentally in young adults complaining of back pain. Osteomesopyknosis is inherited in an autosomal dominant manner but the genetic cause has not yet been identified. It is generally benign and life expectancy is normal. | |
What are the symptoms of Osteomesopyknosis ? | What are the signs and symptoms of Osteomesopyknosis? Osteomesopyknosis may cause chronic, low-grade back pain in the thoracic (middle) and lumbar (lower) regions. It is considered a mild form of osteosclerosis and is usually found in young adults or teenagers. Height and intellect are not affected. Life expectancy in affected people is normal. There are cases of association with other findings such as ovarian sclerosis and lymphoma; however, it is uncertain whether they have been coincidental or features of the disorder. The Human Phenotype Ontology provides the following list of signs and symptoms for Osteomesopyknosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Increased bone mineral density 90% Abnormal form of the vertebral bodies 50% Kyphosis 50% Scoliosis 50% Abnormal cortical bone morphology 7.5% Abnormality of metabolism/homeostasis 7.5% Autosomal dominant inheritance - Infertility - Low back pain - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
Is Osteomesopyknosis inherited ? | How is osteomesopyknosis inherited? Osteomesopyknosis is inherited in an autosomal dominant manner. This means that having only one mutated copy of the responsible gene (which has not yet been identified) is enough to cause signs or symptoms of the disorder. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to be affected. There have been reported cases where both parents of an affected person did not appear to have the condition. The chance of having signs and symptoms when the responsible mutation is present (penetrance), and potential nature of signs and symptoms (expressivity), is not clear. | |
What are the symptoms of Aortic arch anomaly - peculiar facies - intellectual disability ? | What are the signs and symptoms of Aortic arch anomaly - peculiar facies - intellectual disability? The Human Phenotype Ontology provides the following list of signs and symptoms for Aortic arch anomaly - peculiar facies - intellectual disability. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Broad forehead 90% Carious teeth 90% Cognitive impairment 90% Convex nasal ridge 90% Downturned corners of mouth 90% Facial asymmetry 90% Low-set, posteriorly rotated ears 90% Macrotia 90% Narrow mouth 90% Overriding aorta 90% Prominent nasal bridge 90% Triangular face 90% Arteriovenous malformation 50% Microcephaly 50% Abnormality of the hip bone 7.5% Behavioral abnormality 7.5% Genu varum 7.5% Hypoplasia of the zygomatic bone 7.5% Intrauterine growth retardation 7.5% Mandibular prognathia 7.5% Muscular hypotonia 7.5% Abnormal facial shape - Autosomal dominant inheritance - Intellectual disability - Right aortic arch with mirror image branching - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Vici syndrome ? | Vici syndrome is a multisystem disorder characterized by agenesis (failure to develop) of the corpus callosum, cataracts , hypopigmentation of the eyes and hair, cardiomyopathy, and combined immunodeficiency. Hearing loss, seizures, and delayed motor development have also been reported. Swallowing and feeding difficulties early on may result in a failure to thrive. Recurrent infections of the respiratory, gastrointestinal, and urinary tracts are common. Vici syndrome is caused by mutations in the EPG5 gene and is inherited in an autosomal recessive manner. Treatment is mainly supportive. | |
What are the symptoms of Vici syndrome ? | What are the signs and symptoms of Vici syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Vici syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of retinal pigmentation 90% Aplasia/Hypoplasia of the corpus callosum 90% Cellular immunodeficiency 90% Cognitive impairment 90% EEG abnormality 90% Generalized hypopigmentation 90% Hypertrophic cardiomyopathy 90% Hypopigmentation of hair 90% Muscular hypotonia 90% Recurrent respiratory infections 90% Short stature 90% Abnormality of neuronal migration 50% Abnormality of the palate 50% Abnormality of the renal tubule 50% Aplasia/Hypoplasia of the cerebellum 50% Cataract 50% Nystagmus 50% Optic atrophy 50% Seizures 50% Abnormality of the macula 7.5% Cerebral cortical atrophy 7.5% Hypertelorism 7.5% Hypotelorism 7.5% Limitation of joint mobility 7.5% Sensorineural hearing impairment 7.5% Sleep disturbance 7.5% Abnormal posturing - Abnormality of the thymus - Acidosis - Agenesis of corpus callosum - Albinism - Autosomal recessive inheritance - Cerebellar vermis hypoplasia - Chronic mucocutaneous candidiasis - Cleft palate - Cleft upper lip - Congenital cataract - Congenital onset - Congestive heart failure - Cutaneous anergy - Decreased number of CD4+ T cells - Decreased T cell activation - Dilated cardiomyopathy - Failure to thrive - Growth delay - Hypopigmentation of the fundus - IgG deficiency - Immunoglobulin IgG2 deficiency - Left ventricular hypertrophy - Low-set ears - Microcephaly - Motor delay - Myopathy - Ocular albinism - Penile hypospadias - Recurrent bacterial infections - Recurrent fungal infections - Recurrent viral infections - Schizencephaly - White matter neuronal heterotopia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Amyopathic dermatomyositis ? | Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typical skin findings without muscle weakness. Some of the skin changes that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair. While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included. Fatigue is reported in at least 50% of patients. Some cases have been associated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin. | |
What are the symptoms of Amyopathic dermatomyositis ? | What are the signs and symptoms of Amyopathic dermatomyositis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyopathic dermatomyositis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eye 90% Autoimmunity 90% EMG abnormality 90% Muscle weakness 90% Myalgia 90% Periorbital edema 90% Abnormal hair quantity 50% Abnormality of the nail 50% Acrocyanosis 50% Arthralgia 50% Arthritis 50% Chondrocalcinosis 50% Dry skin 50% Muscular hypotonia 50% Poikiloderma 50% Pruritus 50% Pulmonary fibrosis 50% Recurrent respiratory infections 50% Respiratory insufficiency 50% Restrictive lung disease 50% Skin ulcer 50% Weight loss 50% Abnormality of eosinophils 7.5% Abnormality of temperature regulation 7.5% Abnormality of the myocardium 7.5% Abnormality of the pericardium 7.5% Abnormality of the voice 7.5% Aplasia/Hypoplasia of the skin 7.5% Arrhythmia 7.5% Cellulitis 7.5% Coronary artery disease 7.5% Cutaneous photosensitivity 7.5% Feeding difficulties in infancy 7.5% Gangrene 7.5% Gastrointestinal stroma tumor 7.5% Lymphoma 7.5% Neoplasm of the breast 7.5% Neoplasm of the lung 7.5% Neurological speech impairment 7.5% Ovarian neoplasm 7.5% Pulmonary hypertension 7.5% Telangiectasia of the skin 7.5% Vasculitis 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Diffuse panbronchiolitis ? | What are the signs and symptoms of Diffuse panbronchiolitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse panbronchiolitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bronchiectasis - Cough - Hypoxemia - Progressive - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Urea cycle disorders ? | A urea cycle disorder is a genetic disorder that results in a deficiency of one of the six enzymes in the urea cycle. These enzymes are responsible for removing ammonia from the blood stream. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is changed to a compound called urea and removed from the blood. Normally, the urea is removed from the body through the urine. In urea cycle disorders, nitrogen builds up in the blood in the form of ammonia, a highly toxic substance, resulting in hyperammonemia (elevated blood ammonia). Ammonia then reaches the brain through the blood, where it can cause irreversible brain damage, coma and/or death. The onset and severity of urea cycle disorders is highly variable. The severity correlates with the amount of urea cycle enzyme function. | |
What are the symptoms of Talonavicular coalition ? | What are the signs and symptoms of Talonavicular coalition? The Human Phenotype Ontology provides the following list of signs and symptoms for Talonavicular coalition. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Clinodactyly of the 5th finger - Proximal/middle symphalangism of 5th finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Familial erythrocytosis, 1 ? | What are the signs and symptoms of Familial erythrocytosis, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial erythrocytosis, 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of erythrocytes 90% Abnormality of the heme biosynthetic pathway 90% Epistaxis 90% Migraine 90% Respiratory insufficiency 90% Thrombophlebitis 90% Vertigo 90% Abdominal pain 50% Arthralgia 50% Pruritus 50% Abnormality of coagulation 7.5% Apnea 7.5% Cerebral ischemia 7.5% Autosomal dominant inheritance - Cerebral hemorrhage - Exertional dyspnea - Fatigue - Headache - Hypertension - Increased hematocrit - Increased hemoglobin - Increased red blood cell mass - Myocardial infarction - Peripheral thrombosis - Plethora - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma ? | What are the signs and symptoms of Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal electroretinogram 90% Abnormality of retinal pigmentation 90% Aplasia/Hypoplasia affecting the eye 90% Myopia 90% Optic atrophy 90% Visual impairment 90% Nystagmus 7.5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Cystoid macular degeneration - Glaucoma - Macular atrophy - Microphthalmia - Nyctalopia - Pigmentary retinal degeneration - Retinal degeneration - Slitlike anterior chamber angles in children - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Hereditary mucoepithelial dysplasia ? | Hereditary mucoepithelial dysplasia (HMD) is a condition that affects the skin, hair, mucosa (areas of the body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition. | |
What are the symptoms of Hereditary mucoepithelial dysplasia ? | What are the signs and symptoms of Hereditary mucoepithelial dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary mucoepithelial dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cataract 90% Corneal dystrophy 90% Fine hair 90% Furrowed tongue 90% Gingival overgrowth 90% Hyperkeratosis 90% Tracheoesophageal fistula 90% Abnormality of female internal genitalia 50% Nystagmus 50% Photophobia 50% Pulmonary fibrosis 50% Hematuria 7.5% Chronic diarrhea 5% Melena 5% Nail dysplasia 5% Nail dystrophy 5% Recurrent pneumonia 5% Alopecia - Autosomal dominant inheritance - Blindness - Chronic monilial nail infection - Chronic mucocutaneous candidiasis - Coarse hair - Congenital onset - Cor pulmonale - Corneal neovascularization - Eosinophilia - Esotropia - Fibrocystic lung disease - Keratoconjunctivitis - Opacification of the corneal stroma - Pneumonia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Ehlers-Danlos syndrome, vascular type ? | Ehlers-Danlos syndrome (EDS), vascular type is an inherited connective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the most severe form of Ehlers-Danlos syndrome. Common symptoms include thin, translucent skin; easy bruising; characteristic facial appearance; and fragile arteries, muscles and internal organs. EDS, vascular type is caused by changes (mutations) in the COL3A1 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms. | |
What are the symptoms of Ehlers-Danlos syndrome, vascular type ? | What are the signs and symptoms of Ehlers-Danlos syndrome, vascular type? The signs and symptoms of Ehlers-Danlos syndrome (EDS), vascular type vary but may include: Fragile tissues (including arteries, muscles and internal organs) that are prone to rupture Thin, translucent skin Characteristic facial appearance (thin lips, small chin, thin nose, large eyes) Acrogeria (premature aging of the skin of the hands and feet) Hypermobility of small joints (i.e. fingers and toes) Early-onset varicose veins Pneumothorax Easy bruising Joint dislocations and subluxations (partial dislocation) Congenital dislocation of the hips Congenital clubfoot Receding gums The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome, vascular type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of coagulation 90% Abnormality of the eyelashes 90% Abnormality of the hip bone 90% Abnormality of the mitral valve 90% Abnormality of the pleura 90% Acrocyanosis 90% Aneurysm 90% Aortic dissection 90% Aplasia/Hypoplasia of the earlobes 90% Aplasia/Hypoplasia of the eyebrow 90% Bladder diverticulum 90% Bruising susceptibility 90% Carious teeth 90% Cognitive impairment 90% Cryptorchidism 90% Epicanthus 90% Flexion contracture 90% Gastrointestinal infarctions 90% Hypermelanotic macule 90% Hypertelorism 90% Hypokalemia 90% Low-set, posteriorly rotated ears 90% Melanocytic nevus 90% Pectus excavatum 90% Peripheral arteriovenous fistula 90% Prematurely aged appearance 90% Short stature 90% Sprengel anomaly 90% Telecanthus 90% Thin skin 90% Glaucoma 50% Malar flattening 50% Premature birth 50% Proptosis 50% Respiratory insufficiency 50% Talipes 50% Telangiectasia of the skin 50% Thin vermilion border 50% Venous insufficiency 50% Abnormality of hair texture 7.5% Abnormality of the intestine 7.5% Abnormality of the palate 7.5% Abnormality of the pulmonary artery 7.5% Abnormality of the pupil 7.5% Alopecia 7.5% Aplasia/Hypoplasia of the abdominal wall musculature 7.5% Apnea 7.5% Arterial dissection 7.5% Atypical scarring of skin 7.5% Blue sclerae 7.5% Cerebral ischemia 7.5% Cutis laxa 7.5% Cystocele 7.5% Decreased corneal thickness 7.5% Deeply set eye 7.5% Dilatation of the ascending aorta 7.5% Displacement of the external urethral meatus 7.5% Gingival overgrowth 7.5% Gingivitis 7.5% Hematuria 7.5% Joint dislocation 7.5% Joint hypermobility 7.5% Microdontia 7.5% Migraine 7.5% Narrow nasal bridge 7.5% Osteoarthritis 7.5% Osteolysis 7.5% Premature loss of primary teeth 7.5% Ptosis 7.5% Reduced consciousness/confusion 7.5% Renovascular hypertension 7.5% Trismus 7.5% Umbilical hernia 7.5% Uterine rupture 7.5% Vertigo 7.5% Abnormality of the urinary system - Absent earlobe - Acroosteolysis (feet) - Alopecia of scalp - Autosomal dominant inheritance - Cerebral aneurysm - Cigarette-paper scars - Fragile skin - Hemoptysis - Hypermobility of distal interphalangeal joints - Inguinal hernia - Keratoconus - Mitral valve prolapse - Molluscoid pseudotumors - Osteolytic defects of the phalanges of the hand - Periodontitis - Premature delivery because of cervical insufficiency or membrane fragility - Premature loss of teeth - Spontaneous pneumothorax - Talipes equinovarus - Uterine prolapse - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What causes Ehlers-Danlos syndrome, vascular type ? | What causes Ehlers-Danlos syndrome, vascular type? Ehlers-Danlos syndrome (EDS), vascular type is caused by changes (mutations) in the COL3A1 gene. The COL3A1 gene provides instructions for making a component of type III collagen. Collagen is a protein that provides structure and strength to connective tissues throughout the body. Type III collagen, specifically, is found in tissues such as the skin, lungs, intestinal walls, and the walls of blood vessels. Mutations in the COL3A1 gene lead to defects in type III collagen molecules and/or reduced amounts of functional type III collagen. This causes the many signs and symptoms associated with EDS, vascular type. | |
Is Ehlers-Danlos syndrome, vascular type inherited ? | Is Ehlers-Danlos syndrome, vascular type inherited? Ehlers-Danlos syndrome (EDS), vascular type is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with EDS, vascular type has a 50% chance with each pregnancy of passing along the altered gene to his or her child. | |
How to diagnose Ehlers-Danlos syndrome, vascular type ? | How is Ehlers-Danlos syndrome, vascular type diagnosed? A diagnosis of Ehlers-Danlos syndrome (EDS), vascular type is typically based on the presence of characteristic signs and symptoms. Genetic testing for a change (mutation) in the COL3A1 gene can then be ordered to confirm the diagnosis. Collagen typing performed on a skin biopsy may be recommended if genetic testing is inconclusive. Collagen is a tough, fiber-like protein that makes up about a third of body protein. It is part of the structure of tendons, bones, and connective tissues. People with EDS, vascular type have abnormalities in type III collagen. | |
What are the treatments for Ehlers-Danlos syndrome, vascular type ? | How might Ehlers-Danlos syndrome, vascular type be treated? The treatment and management of Ehlers-Danlos syndrome (EDS), vascular type is focused on relieving associated signs and symptoms and preventing serious complications. For example, people with EDS, vascular type have tissue fragility that puts them at high risk for rupture of arteries, muscles and internal organs. It is, therefore, important to seek immediate medical attention for any sudden, unexplained pain as emergency surgery may be indicated. Pregnant women with EDS, vascular type should be followed by a maternal-fetal specialists at a high-risk perinatal center. Periodic screening may be recommended to diagnose aneurysms or other problems that may not be associated with obvious symptoms. People with the EDS, vascular type should also minimize risk of injury by avoiding contact sports, heavy lifting, and weight training. Elective surgery is also discouraged. GeneReview's Web site offers more specific information about the treatment and management of EDS, vascular type. Please click on the link to access this resource. Please speak to your healthcare provider if you have any questions about your personal medical management plan. | |
What are the symptoms of Autosomal recessive Charcot-Marie-Tooth disease with hoarseness ? | What are the signs and symptoms of Autosomal recessive Charcot-Marie-Tooth disease with hoarseness? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive Charcot-Marie-Tooth disease with hoarseness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Onion bulb formation 7.5% Areflexia - Autosomal recessive inheritance - Axonal degeneration/regeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Flexion contracture - Neonatal onset - Pes cavus - Spinal deformities - Split hand - Vocal cord paresis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of GOMBO syndrome ? | What are the signs and symptoms of GOMBO syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for GOMBO syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of cardiovascular system morphology - Autosomal recessive inheritance - Brachydactyly syndrome - Clinodactyly - Delayed puberty - Intellectual disability, progressive - Intellectual disability, severe - Microcephaly - Microphthalmia - Radial deviation of finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Familial hyperlipo-proteinemia type 1 ? | What are the signs and symptoms of Familial hyperlipo-proteinemia type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hyperlipo-proteinemia type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Episodic abdominal pain - Eruptive xanthomas - Hepatosplenomegaly - Hypercholesterolemia - Hyperchylomicronemia - Hyperlipidemia - Jaundice - Lipemia retinalis - Nausea - Pancreatitis - Splenomegaly - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Tucker syndrome ? | What are the signs and symptoms of Tucker syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tucker syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the voice 90% Hemiplegia/hemiparesis 90% Laryngomalacia 90% Ptosis 90% Premature birth 50% Short stature 50% Autosomal dominant inheritance - Bilateral ptosis - Vocal cord paralysis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Fallopian tube cancer ? | Fallopian tube cancer develops in the tubes that connect a woman's ovaries and uterus. It is very rare and accounts for only 1-2% of all gynecologic cancers. Fallopian tube cancer occurs when normal cells in one or both tubes change and grow in an uncontrolled way, forming a mass called a tumor. Cancer can begin in any of the different cell types that make up the fallopian tubes. The most common type is called adenocarcinoma (a cancer of cells from glands). Leiomyosarcoma (a cancer of smooth muscle cells) and transitional cell carcinoma (a cancer of the cells lining the fallopian tubes) are more rare. While some fallopian tube cancers actually begin in the tubes themselves, fallopian tube cancer is more often the result of cancer spreading from other parts of the body to the tubes. For example, the fallopian tubes are a common site of metastasis (spread) of cancers that started in the ovaries, uterus, endometrium, (the tissue lining the uterus) appendix, or colon. Women with fallopian tube cancer may experience symptoms, although some affected women may have no symptoms at all. The signs of fallopian tube cancer are often non-specific, meaning that they can also be signs of other medical conditions that are not cancer. Signs and symptoms of fallopian tube cancer can include: irregular or heavy vaginal bleeding (especially after menopause); occasional abdominal or pelvic pain or feeling of pressure; vaginal discharge that may be clear, white, or tinged with blood; and a pelvic mass or lump. Doctors use many tests to diagnose cancer of the fallopian tubes. Some of these tests may include: pelvic examination, transvaginal ultrasound, a blood test that measures the tumor marker CA-125, computed tomography (CT or CAT) scan, and magnetic resonance imaging (MRI). Fallopian tube cancer can be best treated when detected early. If the cancer has spread to the walls of the tubes or outside of the tubes, then there is a lower chance that the disease can be treated successfully. The stage of the cancer determines the type of treatment needed. Most women will need surgery and some will go on to have chemotherapy and/or radiation therapy. [1] [2] | |
What is (are) Asperger syndrome ? | Asperger syndrome (AS) is an autism spectrum disorder, a type of neurological condition characterized by impaired language and communication skills, and repetitive or restrictive thought and behavior patterns. Unlike many people with autism, those with AS retain their early language skills. Features of AS include an obsessive interest in a particular object or topic; high vocabulary; formal speech patterns; repetitive routines or habits; inappropriate social and emotional behavior; impaired non-verbal communication; and uncoordinated motor skills. AS is likely caused by a combination of genetic and environmental influences. While autism spectrum disorders including AS sometimes run in families, no specific inheritance pattern has been recognized. | |
Is Asperger syndrome inherited ? | Is Asperger syndrome inherited? Autism spectrum disorders including Asperger syndrome sometimes "run in families," but no specific inheritance pattern has been recognized. The condition is likely caused by a combination of genetic and environmental factors, which means that not all people with a genetic predisposition will be affected. A consultation with a genetics professional is recommended for those with specific questions about genetic risks to themselves or family members. | |
What is (are) Trisomy 18 ? | Trisomy 18 is a chromosome disorder characterized by having 3 copies of chromosome 18 instead of the usual 2 copies. Signs and symptoms include severe intellectual disability; low birth weight; a small, abnormally shaped head; a small jaw and mouth; clenched fists with overlapping fingers; congenital heart defects; and various abnormalities of other organs. Trisomy 18 is a life-threatening condition; many affected people die before birth or within the first month of life. Some children have survived to their teenage years, but with serious medical and developmental problems. Most cases are not inherited and occur sporadically (by chance). | |
What are the symptoms of Trisomy 18 ? | What are the signs and symptoms of Trisomy 18? The Human Phenotype Ontology provides the following list of signs and symptoms for Trisomy 18. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Atria septal defect 90% Broad forehead 90% Camptodactyly of finger 90% Cognitive impairment 90% Cryptorchidism 90% Decreased body weight 90% Deviation of finger 90% Dolichocephaly 90% High forehead 90% Hypertelorism 90% Hypertonia 90% Intrauterine growth retardation 90% Low-set, posteriorly rotated ears 90% Muscular hypotonia 90% Narrow face 90% Narrow mouth 90% Omphalocele 90% Pointed helix 90% Prominent occiput 90% Short nose 90% Short stature 90% Triangular face 90% Underdeveloped supraorbital ridges 90% Ventricular septal defect 90% Abnormality of female internal genitalia 50% Abnormality of the fontanelles or cranial sutures 50% Abnormality of the hip bone 50% Abnormality of the toenails 50% Abnormality of the upper urinary tract 50% Blepharophimosis 50% Choanal atresia 50% Cleft palate 50% Congenital diaphragmatic hernia 50% Delayed skeletal maturation 50% Epicanthus 50% Microcephaly 50% Non-midline cleft lip 50% Oligohydramnios 50% Single transverse palmar crease 50% Urogenital fistula 50% Webbed neck 50% Abnormality of retinal pigmentation 7.5% Abnormality of the ribs 7.5% Anencephaly 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Arnold-Chiari malformation 7.5% Cataract 7.5% Cyclopia 7.5% Glaucoma 7.5% Holoprosencephaly 7.5% Iris coloboma 7.5% Microcornea 7.5% Postaxial hand polydactyly 7.5% Spina bifida 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What causes Trisomy 18 ? | What causes Trisomy 18? In most cases, trisomy 18 is caused by having 3 copies of chromosome 18 in each cell in the body, instead of the usual 2 copies. The extra genetic material from the 3rd copy of the chromosome disrupts development, causing the characteristic signs and symptoms of the condition. About 5% of people with trisomy 18 have 'mosaic trisomy 18' (when there is an extra copy of the chromosome in only some of the body's cells). The severity of mosaic trisomy 18 depends on the number and locations of cells with the extra copy. Very rarely, an extra piece of chromosome 18 is attached to another chromosome; this is called translocation trisomy 18, or partial trisomy 18. If only part of the long (q) arm of chromosome 18 is present in 3 copies, the features may be less severe than in people with full trisomy 18. | |
Is Trisomy 18 inherited ? | Is trisomy 18 inherited? Most cases of trisomy 18 are not inherited and occur randomly due to errors in the formation of eggs or sperm. If an egg or sperm gains an extra copy of chromosome 18 during cell division and contributes to a pregnancy, the embryo will have an extra chromosome 18 (trisomy) in each cell of the body. Mosaic trisomy 18 (when some body cells have trisomy 18 and some have a normal chromosome make-up), is also typically not inherited. Mosaic trisomy 18 is also due to an error in cell division, but the error occurs early in embryonic development. About 5% of affected people have a mosaic form of trisomy 18. Partial trisomy 18 (when only part of chromosome 18 is present in 3 copies) can be inherited. An unaffected parent can carry a rearrangement of genetic material between chromosome 18 and another chromosome. This rearrangement is called a balanced translocation because there is no extra or missing genetic material. However, a person with a balanced translocation has an increased risk with each pregnancy to have a child with trisomy 18. | |
What are the symptoms of Pachygyria with mental retardation and seizures ? | What are the signs and symptoms of Pachygyria with mental retardation and seizures? The Human Phenotype Ontology provides the following list of signs and symptoms for Pachygyria with mental retardation and seizures. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Seizures 90% Premature birth 50% Abnormality of the skeletal system - Arachnoid cyst - Atypical absence seizures - Autosomal recessive inheritance - Generalized tonic-clonic seizures - Intellectual disability - Pachygyria - Profound static encephalopathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Bardet-Biedl syndrome 5 ? | What are the signs and symptoms of Bardet-Biedl syndrome 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the kidney 95% Micropenis 88% Myopia 75% Astigmatism 63% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Hearing impairment 7.5% Macrocephaly 7.5% Vaginal atresia 7.5% Aganglionic megacolon 5% Asthma - Ataxia - Autosomal recessive inheritance - Biliary tract abnormality - Brachydactyly syndrome - Broad foot - Congenital primary aphakia - Decreased testicular size - Delayed speech and language development - Dental crowding - Diabetes mellitus - Foot polydactyly - Gait imbalance - Hepatic fibrosis - High palate - Hirsutism - Hypertension - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Neurological speech impairment - Nystagmus - Obesity - Poor coordination - Postaxial hand polydactyly - Radial deviation of finger - Retinal degeneration - Short foot - Specific learning disability - Strabismus - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Pelvic dysplasia arthrogryposis of lower limbs ? | What are the signs and symptoms of Pelvic dysplasia arthrogryposis of lower limbs? The Human Phenotype Ontology provides the following list of signs and symptoms for Pelvic dysplasia arthrogryposis of lower limbs. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Depressed nasal bridge 90% Gait disturbance 90% Limitation of joint mobility 90% Skeletal muscle atrophy 90% Slender long bone 90% Abnormality of the hip bone 50% Blue sclerae 50% Sacrococcygeal pilonidal abnormality 50% Spina bifida occulta 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Biotin-thiamine-responsive basal ganglia disease ? | Biotin-thiamine-responsive basal ganglia disease is a rare condition that affects the brain and other parts of the nervous system. The severity of the condition and the associated signs and symptoms vary from person to person, even within the same family. Without early diagnosis and treatment, most affected people develop features of the condition between ages 3 and 10 years. Signs and symptoms may include recurrent episodes of confusion, seizures, ataxia (problems coordinating movements), dystonia, facial palsy (weakness of the facial muscles), external ophthalmoplegia (paralysis of the muscles surrounding the eye), and dysphagia. Eventually, these episodes can lead to coma or even death. Biotin-thiamine-responsive basal ganglia disease is caused by changes (mutations) in the SLC19A3 gene and is inherited in an autosomal recessive manner. As its name suggests, early and lifelong treatment with the vitamins biotin and thiamine may improve the symptoms. | |
What are the symptoms of Biotin-thiamine-responsive basal ganglia disease ? | What are the signs and symptoms of Biotin-thiamine-responsive basal ganglia disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Biotin-thiamine-responsive basal ganglia disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the basal ganglia - Autosomal recessive inheritance - Babinski sign - Coma - Confusion - Craniofacial dystonia - Dysarthria - Dysphagia - Encephalopathy - External ophthalmoplegia - Fever - Gait ataxia - Inability to walk - Irritability - Juvenile onset - Morphological abnormality of the pyramidal tract - Muscular hypotonia of the trunk - Mutism - Nystagmus - Paraparesis - Ptosis - Rigidity - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Glutaric acidemia type I ? | Glutaric acidemia type I (GA1) is an inherited disorder in which the body can't process certain proteins properly. People with GA1 have inadequate levels of an enzyme needed to break down certain amino acids. These amino acids and their intermediate breakdown products can accumulate, causing damage to the brain (particularly the basal ganglia, which helps control movement). Specific symptoms and severity vary, but features may include macrocephaly; difficulty moving; having jerking, rigidity, or decreased muscle tone; and/or intellectual disability. GA1 is caused by mutations in the GCDH gene and is inherited in an autosomal recessive manner. Treatment includes strict dietary control, which may limit progression of symptoms. | |
What are the symptoms of Glutaric acidemia type I ? | What are the signs and symptoms of Glutaric acidemia type I? The specific symptoms and severity in people with glutaric acidemia type 1 (GA1) can vary widely. Some people are mildly affected, while others have severe problems. Signs and symptoms usually first occur in infancy or early childhood, but sometimes symptoms begin in adolescence or adulthood. Some infants with GA1 have a large head circumference (macrocephaly). Other features that may occur in affected people include difficulty moving; experiencing spasms, jerking, rigidity, or decreased muscle tone; and intellectual disability. Stress on the body (such as infection and fever) can cause worsening of symptoms. The Human Phenotype Ontology provides the following list of signs and symptoms for Glutaric acidemia type I. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fontanelles or cranial sutures 90% Encephalitis 90% Nausea and vomiting 90% Abnormal facial shape 50% Abnormal joint morphology 50% Abnormality of extrapyramidal motor function 50% Behavioral abnormality 50% Chorea 50% Feeding difficulties in infancy 50% Frontal bossing 50% Hypertonia 50% Macrocephaly 50% Muscular hypotonia 50% Abnormality of eye movement 7.5% Abnormality of the retinal vasculature 7.5% Cerebral ischemia 7.5% Cognitive impairment 7.5% Developmental regression 7.5% Gait disturbance 7.5% Hemiplegia/hemiparesis 7.5% Intracranial hemorrhage 7.5% Malignant hyperthermia 7.5% Migraine 7.5% Neurological speech impairment 7.5% Reduced consciousness/confusion 7.5% Seizures 7.5% Vertigo 7.5% Autosomal recessive inheritance - Choreoathetosis - Delayed myelination - Dilation of lateral ventricles - Dystonia - Failure to thrive - Glutaric acidemia - Glutaric aciduria - Hepatomegaly - Hypoglycemia - Infantile encephalopathy - Ketonuria - Ketosis - Metabolic acidosis - Opisthotonus - Rigidity - Spastic diplegia - Symmetrical progressive peripheral demyelination - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
Is Glutaric acidemia type I inherited ? | How is glutaric acidemia type I inherited? Glutaric acidemia type I is inherited in an autosomal recessive manner. This means that both copies of the responsible gene in each cell must have mutations for a person to be affected. The parents of a person with an autosomal recessive condition typically each carry one mutated copy of the gene and are referred to as carriers. Carriers of an autosomal recessive condition typically are unaffected and have no signs or symptoms. When two carrier parents have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to be unaffected and not be a carrier. | |
How to diagnose Glutaric acidemia type I ? | Is genetic testing available for glutaric acidemia type I? Yes. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for this condition. The intended audience for the GTR is health care providers and researchers. Therefore, patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. | |
What are the symptoms of Retinal cone dystrophy 1 ? | What are the signs and symptoms of Retinal cone dystrophy 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal cone dystrophy 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal electroretinogram 90% Abnormality of color vision 90% Abnormality of retinal pigmentation 90% Photophobia 90% Visual impairment 90% Autosomal dominant inheritance - Bull's eye maculopathy - Diffuse retinal cone degeneration - Progressive visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of X-linked lissencephaly with abnormal genitalia ? | What are the signs and symptoms of X-linked lissencephaly with abnormal genitalia? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked lissencephaly with abnormal genitalia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of neuronal migration 90% Aplasia/Hypoplasia of the corpus callosum 90% Cognitive impairment 90% Cryptorchidism 90% Hypoplasia of penis 90% Microcephaly 90% Seizures 90% Hypohidrosis 50% Malabsorption 50% Muscular hypotonia 50% Ventriculomegaly 50% Aganglionic megacolon 7.5% Exocrine pancreatic insufficiency 7.5% Frontal bossing 7.5% Hypertonia 7.5% Patent ductus arteriosus 7.5% Ventricular septal defect 7.5% Agenesis of corpus callosum - Decreased testicular size - Diarrhea - Duane anomaly - Feeding difficulties in infancy - Gliosis - High forehead - High palate - Hyperreflexia - Lissencephaly - Long philtrum - Long upper lip - Low-set ears - Micropenis - Pachygyria - Prominent nasal bridge - Severe global developmental delay - Spasticity - Specific learning disability - Wide anterior fontanel - Wide nasal bridge - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Yemenite deaf-blind hypopigmentation syndrome ? | What are the signs and symptoms of Yemenite deaf-blind hypopigmentation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Yemenite deaf-blind hypopigmentation syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cafe-au-lait spot 90% Delayed eruption of teeth 90% Freckling 90% Hypopigmented skin patches 90% Irregular hyperpigmentation 90% Macrodontia 90% Nystagmus 90% Strabismus 90% Anterior chamber synechiae 50% Gait disturbance 50% High forehead 50% Iris coloboma 50% Microcornea 50% Ocular albinism 50% Short philtrum 50% Abnormality of the palate 7.5% Blepharophimosis 7.5% Hypermetropia 7.5% Hypertonia 7.5% Taurodontia 7.5% Autosomal recessive inheritance - Chorioretinal coloboma - Numerous pigmented freckles - Patchy hypo- and hyperpigmentation - Severe sensorineural hearing impairment - White forelock - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Hypotrichosis simplex ? | Hypotrichosis simplex is a rare form of hereditary hair loss without other abnormalities. Affected individuals typically show normal hair at birth, but experience hair loss and thinning of the hair shaft that starts during early childhood and progresses with age. Hypotrichosis simplex can be divided into 2 forms: the scalp-limited form and the generalized form, in which all body hair is affected. The progressive thinning of the hair shaft is a typical feature of androgenetic alopecia. Hypotrichosis simplex can be inherited either as an autosomal dominant or autosomal recessive trait. Some cases are caused by mutations in the APCDD1 gene on chromosome 18p11. To date, there is no treatment for this condition. | |
What are the symptoms of Hypotrichosis simplex ? | What are the signs and symptoms of Hypotrichosis simplex? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypotrichosis simplex. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypotrichosis 100% Abnormality of the eyelashes 90% Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Congenital, generalized hypertrichosis 50% Woolly hair 50% Hyperkeratosis 7.5% Pruritus 7.5% Autosomal dominant inheritance - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the treatments for Hypotrichosis simplex ? | Is there treatment for hypotrichosis simplex? Is there hope for hair growth in the future? Individuals with hypotrichosis simplex experience a gradual loss of scalp hair that begins during the middle of the first decade and results in almost complete loss of hair by the third decade. A few sparse, fine, short hairs may remain in some individuals. There is currently no treatment for hypotrichosis simplex. | |
What are the symptoms of Okamoto syndrome ? | What are the signs and symptoms of Okamoto syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Okamoto syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Abnormality of the hip bone 90% Anteverted nares 90% Cleft palate 90% Cognitive impairment 90% Depressed nasal bridge 90% Downturned corners of mouth 90% Low-set, posteriorly rotated ears 90% Malar flattening 90% Muscular hypotonia 90% Open mouth 90% Proptosis 90% Short nose 90% Abnormality of the cardiac septa 50% Abnormality of the fingernails 50% Epicanthus 50% Long philtrum 50% Synophrys 50% Webbed neck 50% Abnormality of female internal genitalia 7.5% Abnormality of the aortic valve 7.5% Abnormality of the pinna 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Finger syndactyly 7.5% Hypertelorism 7.5% Hypoplastic left heart 7.5% Intestinal malrotation 7.5% Microcephaly 7.5% Patent ductus arteriosus 7.5% Renal hypoplasia/aplasia 7.5% Splenomegaly 7.5% Tented upper lip vermilion 7.5% Urogenital fistula 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Hawkinsinuria ? | What are the signs and symptoms of Hawkinsinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Hawkinsinuria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Fine hair 90% Muscular hypotonia 50% Hypothyroidism 7.5% 4-Hydroxyphenylacetic aciduria - 4-Hydroxyphenylpyruvic aciduria - Autosomal dominant inheritance - Failure to thrive - Hypertyrosinemia - Metabolic acidosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Corneal endothelial dystrophy type 2 ? | What are the signs and symptoms of Corneal endothelial dystrophy type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal endothelial dystrophy type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Congenital corneal dystrophy - Opacification of the corneal stroma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
Is Corneal endothelial dystrophy type 2 inherited ? | How is corneal endothelial dystropy type 2 inherited? Most cases of corneal endothelial dystrophy type 2 are caused by homozygous mutations in the SLC4A11 gene. The condition is transmitted in an autosomal recessive manner. This means that two unaffected parents each carry one copy of a gene mutation for the condition. Neither parent will show signs or symptoms of the condition because two copies are needed for the condition to occur. There have been several families with corneal endothelial dystrophy type 2 where no mutation was found in the SLC4A11 gene. To find laboratories offering genetic testing to confirm a diagnosis, please visit the Tests and Diagnosis section of the Web site. http://rarediseases.info.nih.gov/gard/6196/ched2/resources/12 | |
What are the symptoms of Zori Stalker Williams syndrome ? | What are the signs and symptoms of Zori Stalker Williams syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Zori Stalker Williams syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Short stature 90% Broad forehead 50% Macrocephaly 50% Depressed nasal bridge 7.5% Frontal bossing 7.5% Hypoplasia of the zygomatic bone 7.5% Hypoplastic toenails 7.5% Muscular hypotonia 7.5% Pectus excavatum 7.5% Prominent supraorbital ridges 7.5% Short nose 7.5% Autosomal dominant inheritance - Hypoplasia of midface - Malar flattening - Nail dysplasia - Prominent forehead - Relative macrocephaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) 17q23.1q23.2 microdeletion syndrome ? | 17q23.1q23.2 microdeletion syndrome is a condition caused by a small deletion of genetic material from chromosome 17. The deletion occurs at a location encompassing bands 23.1 to 23.2 on the long (q) arm of the chromosome. People with 17q23.1q23.2 microdeletion syndrome may have developmental delay, microcephaly, short stature, heart defects and limb abnormalities. Most cases are approximately 2.2 Mb in size and include the transcription factor genes TBX2 and TBX4 which have been implicated in a number of developmental pathways, including those of the heart and limbs. | |
What are the symptoms of 17q23.1q23.2 microdeletion syndrome ? | What are the signs and symptoms of 17q23.1q23.2 microdeletion syndrome? 17q23.1q23.2 microdeletion syndrome is characterized by developmental delay, microcephaly, short stature, heart defects and hand, foot and limb abnormalities. All individuals reported to date have had mild to moderate developmental delay, in particular delays in speech. Most have had heart defects, including patent ductus arteriosus or atrial septal defects. Limb abnormalities include long, thin fingers and toes, and hypoplasia (underdevelopment) of the patellae (knee caps). Scoliosis may also be present. Many patients have also had mild and unspecific unusual facial features. The Human Phenotype Ontology provides the following list of signs and symptoms for 17q23.1q23.2 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arachnodactyly 90% Cognitive impairment 90% Long toe 90% Frontal bossing 50% Intrauterine growth retardation 50% Microcephaly 50% Neurological speech impairment 50% Patent ductus arteriosus 50% Pulmonary hypertension 50% Short stature 50% Abnormality of epiphysis morphology 7.5% Abnormality of the eyelashes 7.5% Abnormality of the hip bone 7.5% Abnormality of the teeth 7.5% Atria septal defect 7.5% Behavioral abnormality 7.5% Blepharitis 7.5% Camptodactyly of toe 7.5% Clinodactyly of the 5th finger 7.5% Depressed nasal bridge 7.5% Epicanthus 7.5% Hearing impairment 7.5% Highly arched eyebrow 7.5% Hyperreflexia 7.5% Hypertelorism 7.5% Limitation of joint mobility 7.5% Low-set, posteriorly rotated ears 7.5% Malar flattening 7.5% Midline defect of the nose 7.5% Muscular hypotonia 7.5% Narrow mouth 7.5% Otitis media 7.5% Patellar aplasia 7.5% Pes planus 7.5% Respiratory insufficiency 7.5% Sacral dimple 7.5% Sandal gap 7.5% Scoliosis 7.5% Shawl scrotum 7.5% Single transverse palmar crease 7.5% Strabismus 7.5% Abnormal facial shape - Aggressive behavior - Bicuspid aortic valve - Intellectual disability, mild - Long fingers - Postnatal growth retardation - Slender finger - Small for gestational age - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What causes 17q23.1q23.2 microdeletion syndrome ? | What causes 17q23.2q23.2 microdeletion syndrome? The syndrome is caused by an interstitial deletion (a deletion that does not involve the ends of a chromosome) encompassing bands 23.1 to 23.2 on the long (q) arm of chromosome 17. Two transcription factors, TBX2 and TBX4, which belong to a family of genes implicated in a variety of developmental pathways including those of heart and limbs, are found within this 2.2Mb region. This suggests that they may play a part in the symptoms seen in this condition. | |
Is 17q23.1q23.2 microdeletion syndrome inherited ? | Is 17q23.2q23.2 microdeletion syndrome inherited? Parental FISH testing in most of the reported cases confirmed a de novo origin, meaning that the deletion was new to the family. | |
How to diagnose 17q23.1q23.2 microdeletion syndrome ? | How is 17q23.1q23.2 microdeletion syndrome diagnosed? The deletion can be identified by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH). | |
What are the symptoms of Van Regemorter Pierquin Vamos syndrome ? | What are the signs and symptoms of Van Regemorter Pierquin Vamos syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Van Regemorter Pierquin Vamos syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Aplasia/Hypoplasia of the eyebrow 90% Broad forehead 90% Hypertelorism 90% Short distal phalanx of finger 90% Short philtrum 90% Thin vermilion border 90% Abnormal form of the vertebral bodies 50% Abnormality of the cardiac septa 50% Abnormality of the fingernails 50% Abnormality of the neck 50% Abnormality of the palate 50% Abnormality of the ribs 50% Anomalous pulmonary venous return 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Downturned corners of mouth 50% Finger syndactyly 50% Hydrocephalus 50% Hypoplasia of penis 50% Impaired pain sensation 50% Muscular hypotonia 50% Narrow mouth 50% Optic atrophy 50% Patent ductus arteriosus 50% Polyhydramnios 50% Premature birth 50% Renal hypoplasia/aplasia 50% Wormian bones 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Familial joint instability syndrome ? | What are the signs and symptoms of Familial joint instability syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial joint instability syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the hip bone 90% Joint hypermobility 90% Patellar dislocation 90% Abnormality of the elbow 7.5% Abnormality of the femur 7.5% Abnormality of the shoulder 7.5% Hernia of the abdominal wall 7.5% Autosomal dominant inheritance - Congenital hip dislocation - Joint laxity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Nystagmus 1, congenital, X- linked ? | What are the signs and symptoms of Nystagmus 1, congenital, X- linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Nystagmus 1, congenital, X- linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Congenital nystagmus - Heterogeneous - Horizontal nystagmus - Infantile onset - Pendular nystagmus - Reduced visual acuity - X-linked dominant inheritance - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Danon disease ? | Danon disease is a type of lysosomal storage disorder. Lysosomes are compartments within the cell that use enzymes to break down large molecules into smaller ones that the cell can use. In Danon disease there is a defect in the wall (membrane) of the lysosome. The defect is caused by mutations in the LAMP2 gene. Danon disease is chiefly characterized by cardiomyopathy (heart disease), although other signs and symptoms may occur as well. Danon disease is inherited in an X-linked fashion, as a result males tend to be more severely affected than females. Females who carry the LAMP2 gene mutation may or may not develop signs and symptoms. | |
What are the symptoms of Danon disease ? | What are the signs and symptoms of Danon disease? Danon disease is characterized by cardiomyopathy. Cardiomyopathy causes the heart muscle to enlarge or become thicker and more rigid than normal. This may make the heart less able to pump blood through the body and can cause serious complications, including sudden death. People with danon disease may also manifest with high levels of serum creatine kinase, eye/vision abnormalities, or Wolff-Parkinson-White syndrome. Wolff-Parkinson-White syndrome is a condition characterized by abnormal electrical pathways in the heart that cause a disruption of the heart's normal rhythm (arrhythmia). Men with Danon disease tend to develop cardiomyopathy prior to the age of 20, and sometimes in early childhood. Women with Danon disease tend to develop cardiomyopathy later in adulthood, however cases of cardiomyopathy in young girls have been reported in the medical literature. Some women who carry LAMP2 gene mutation never develop any or only very minor symptoms. The following additional signs and symptoms are variably present in people with Danon disease: Learning and development (primarily reported in males, however there has been at least one report of an affected female) Mild intellectual ability Mental retardation Attention deficit disorder Skeletal muscle Exercise intolerance Muscle weakness Eye and vision Peripheral pigmentary retinopathy Lens changes Nearsightedness Abnormal visual fields Signs and symptoms of Danon disease can be very similar to those of hypertrophic cardiomyopathy, even though the underlying disease process differs. You can find detailed information on hypertrophic cardiomyopathy, which includes a brief description of Danon disease, by visiting the following link to GeneReviews. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hyper-card The Human Phenotype Ontology provides the following list of signs and symptoms for Danon disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Gait disturbance 90% Hypertrophic cardiomyopathy 90% Muscle weakness 90% Sudden cardiac death 90% Intellectual disability 70% Arrhythmia - Cardiomegaly - Dilated cardiomyopathy - Elevated serum creatine phosphokinase - EMG: myopathic abnormalities - Exercise intolerance - Exercise-induced muscle cramps - Generalized amyotrophy - Hypokinesia - Myocardial fibrosis - Myocardial necrosis - Pes cavus - Phenotypic variability - Proximal muscle weakness - Visual impairment - Wolff-Parkinson-White syndrome - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What causes Danon disease ? | What causes Danon disease? Danon disease is caused by mutation in the LAMP2 gene. LAMP2 stands for lysosomal-associated membrane protein 2. | |
Is Danon disease inherited ? | How is Danon disease inherited? Dannon disease is inherited in an X-linked fashion. Click here to visit the Centre for Genetics Education Web site to learn more about X linked inheritance. | |
How to diagnose Danon disease ? | Is genetic testing available for Danon disease? Yes. GeneTests lists laboratories offering clinical genetic testing for Danon disease. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options. Click on the link above to view a list of testing laboratories. | |
What are the treatments for Danon disease ? | How might the cardiomyopathy in Danon disease be treated? Because Danon disease can be associated with rapidly progressive cardiomyopathy and sudden death, careful monitoring of heart disease is required. Aggressive interventions may be recommended for people showing signs of progressive heart failure (e.g., early intervention with heart transplantation or implantable cardioverter-defibrillator). However, the severity of cardiomyopathy does vary, particularly in females. Management will depend on the presence and severity of the heart disease, and will be tailored to the needs of the patient. | |
What is (are) Mitochondrial complex IV deficiency ? | Cytochrome C oxidase deficiency (COX deficiency) is a condition that can affect several parts of the body including the skeletal muscles, heart, brain and liver. The range and severity of signs and symptoms can vary widely among affected individuals (even within the same family) and depend on the form of the condition present. Features in mildly affected individuals may include muscle weakness and hypotonia; in more severely affected individuals, brain dysfunction; heart problems; an enlarged liver; lactic acidosis; and/or a specific group of features known as Leigh syndrome may also be present. COX deficiency is caused by mutations in any of at least 14 genes; the inheritance pattern depends on the gene involved. The condition is frequently fatal in childhood, but mildly affected individuals may survive into adolescence or adulthood. | |
What are the symptoms of Mitochondrial complex IV deficiency ? | What are the signs and symptoms of Mitochondrial complex IV deficiency? There are currently 4 known forms of COX deficiency. The range and severity of signs and symptoms can vary widely from case to case. In one form, referred to as the benign infantile mitochondrial myopathy type, symptoms may be limited to the skeletal muscles. Episodes of lactic acidosis may occur and can cause life-threatening complications if left untreated. However, with appropriate treatment, individuals with this form of the condition may spontaneously recover within the first few years of life. In the second form of the disorder, referred to as the infantile mitochondrial myopathy type, the skeletal muscles as well as several other tissues (such as the heart, kidney, liver, brain, and/or connective tissue) are affected. Symptoms associated with this form typically begin within the first few weeks of life and may include muscle weakness; heart problems; kidney dysfunction; failure to thrive; difficulties sucking, swallowing, and/or breathing; and/or hypotonia. Affected infants may also have episodes of lactic acidosis. The third form of COX deficiency is thought to be a systemic form of the condition and is referred to as Leigh's disease. This form is characterized by progressive degeneration of the brain as well as dysfunction of several other organs including the heart, kidneys, muscles, and/or liver. Symptoms of this form, which predominantly involve the central nervous system, may begin between three months and two years of age and may include loss of previously acquired motor skills and/or head control; poor sucking ability; loss of appetite; vomiting; irritability; and possible seizures. Intellectual disability may also occur. In the fourth form of COX deficiency, the French-Canadian type, the brain (as in Leigh's disease) and liver are particularly affected in addition to the skeletal muscles and connective tissues. However, in this form, the kidneys and heart appear to have near-normal enzyme activity. Individuals with this form may have developmental delay; hypotonia; slight facial abnormalities; Leigh's disease; strabismus; ataxia; liver degeneration; and/or episodes of lactic acidosis. Although some mildly affected individuals survive into adolescence or adulthood, this condition is often fatal in childhood. The Human Phenotype Ontology provides the following list of signs and symptoms for Mitochondrial complex IV deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria - Anemia - Ataxia - Autosomal recessive inheritance - Decreased activity of cytochrome C oxidase in muscle tissue - Decreased liver function - Exercise intolerance - Exertional dyspnea - Failure to thrive - Glycosuria - Hepatomegaly - Hyperphosphaturia - Hypertrophic cardiomyopathy - Increased CSF lactate - Increased hepatocellular lipid droplets - Increased intramyocellular lipid droplets - Increased serum lactate - Intellectual disability - Lactic acidosis - Mitochondrial inheritance - Motor delay - Muscular hypotonia - Optic atrophy - Pigmentary retinopathy - Proteinuria - Ptosis - Renal Fanconi syndrome - Renal tubular dysfunction - Respiratory difficulties - Respiratory insufficiency due to muscle weakness - Seizures - Sensorineural hearing impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the treatments for Mitochondrial complex IV deficiency ? | How might cytochrome C oxidase deficiency be treated? There is currently no cure for cytochrome C oxidase (COX) deficiency. Management of all forms of COX deficiency generally focuses on the specific symptoms present in the affected individual and is largely supportive. The goals of treatment are to improve symptoms and slow progression of the disease; the effectiveness of treatment varies with each individual. Treatment generally does not reverse any damage that has already occurred. Prognosis varies depending on the form of COX deficiency present. Individuals with benign infantile mitochondrial myopathy may experience spontaneous recovery (although early diagnosis and intensive treatment is still needed until this point), while there may be rapid demise in individuals with Leigh syndrome. It is often recommended that individuals with mitochondrial disorders such as COX deficiency avoid fasting. Dehydration due to vomiting or illness may be treated with intravenous fluid if the individual is not able to take fluids orally. Seizures are typically controlled with anticonvulsants. Some affected individuals may benefit from physical, occupational, and speech therapies that are specifically tailored to their needs. Dietary supplements including certain vitamins and cofactors have shown varying degrees of benefit in individual cases. Individuals interested in specific management recommendations for themselves or relatives should speak with their healthcare providers. | |
What are the symptoms of Limb-girdle muscular dystrophy type 1A ? | What are the signs and symptoms of Limb-girdle muscular dystrophy type 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy type 1A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent Achilles reflex - Achilles tendon contracture - Adult onset - Autosomal dominant inheritance - Elevated serum creatine phosphokinase - EMG: myopathic abnormalities - Heterogeneous - Hyporeflexia - Late-onset distal muscle weakness - Muscle fiber splitting - Muscular dystrophy - Nasal, dysarthic speech - Pelvic girdle muscle weakness - Rimmed vacuoles - Shoulder girdle muscle weakness - Slow progression - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Filippi syndrome ? | Filippi syndrome is an extremely rare genetic condition characterized by a small head (microcephaly), webbing of the fingers and toes (syndactyly), intellectual disability, growth delay, and distinctive facial features (high and broad nasal bridge, thin nostrils, small chin or micrognathia, and a high frontal hairline). Other features can include undescended testicles in males, extra fingers (polydactyly), as well as teeth and hair abnormalities. So far, less than 25 cases have been reported in the medical literature. This condition is inherited in an autosomal recessive fashion. The exact underlying genetic cause is not known. | |
What are the symptoms of Filippi syndrome ? | What are the signs and symptoms of Filippi syndrome? Filippi syndrome is characterized by growth delays before and after birth, a low birth weight, and short stature. Affected individuals are also born with abnormalities of the head and facial area (craniofacial abnormalities), resulting in a distinctive facial appearance. Affected infants typically have a small head (microcephaly), a high forehead, a broad bridge of the nose, thin nostrils, an abnormally thin upper lip, and widely spaced eyes (hypertelorism). Filippi syndrome is also characterized by mild to severe intellectual disability; some affected individuals may have abnormal language and speech development, potentially resulting in an inability to speak. Abnormalities of the fingers and toes have also been reported. These may include webbing or fusion of the fingers and toes (syndactyly). The severity of the syndactyly may be variable, ranging from webbing of skin and other soft tissues to fusion of bone within the affected fingers or toes. Affected individuals can also have extra fingers and/or toes (polydactyly). In addition, the fingers and toes may appear unusually short (brachydactyly), particularly due to abnormalities of the bones within the hands and feet. Some individuals may have additional physical abnormalities including delayed bone age, incomplete closure of the roof of the mouth (cleft palate), and a dislocated elbow. In some affected males, the testes may fail to descend into the scrotum (cryptorchidism). In one report, skin and teeth abnormalities were also noted. The Human Phenotype Ontology provides the following list of signs and symptoms for Filippi syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Clinodactyly of the 5th finger 90% Cognitive impairment 90% Cryptorchidism 90% Finger syndactyly 90% Microcephaly 90% Neurological speech impairment 90% Prominent nasal bridge 90% Short stature 90% Underdeveloped nasal alae 90% Delayed skeletal maturation 50% Frontal bossing 50% Single transverse palmar crease 50% Hypertrichosis 5% Hypodontia 5% Sparse hair 5% 2-4 toe syndactyly - Autosomal recessive inheritance - Broad forehead - Cerebellar atrophy - Decreased body weight - Dystonia - Intellectual disability - Intrauterine growth retardation - Microdontia - Optic atrophy - Postnatal growth retardation - Proptosis - Seizures - Short philtrum - Thin vermilion border - Ventricular septal defect - Visual impairment - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the treatments for Filippi syndrome ? | How might Filippi syndrome be treated? The treatment of Filippi syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of medical professionals who may need to systematically and comprehensively plan an affected child's treatment. These professionals may include pediatricians; physicians who specialize in disorders of the skeleton, joints, muscles, and related tissues (orthopedists); and/or other health care professionals. In some affected individuals, treatment may include surgical repair of certain skeletal or other abnormalities associated with the disorder. The surgical procedures performed will depend upon the severity of the abnormalities, their associated symptoms, and other factors. | |
What are the symptoms of Hurler syndrome ? | What are the signs and symptoms of Hurler syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hurler syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the tonsils 90% Anteverted nares 90% Cerebral palsy 90% Coarse facial features 90% Cognitive impairment 90% Depressed nasal bridge 90% Frontal bossing 90% Full cheeks 90% Hepatomegaly 90% Hernia 90% Hypertrichosis 90% Hypertrophic cardiomyopathy 90% Large face 90% Mucopolysacchariduria 90% Muscular hypotonia 90% Short neck 90% Sinusitis 90% Skeletal dysplasia 90% Splenomegaly 90% Thick eyebrow 90% Wide nasal bridge 90% Abnormality of epiphysis morphology 50% Abnormality of finger 50% Abnormality of the elbow 50% Abnormality of the ribs 50% Abnormality of the tongue 50% Dolichocephaly 50% Glaucoma 50% Hearing impairment 50% Hydrocephalus 50% Hypertension 50% Malabsorption 50% Opacification of the corneal stroma 50% Recurrent respiratory infections 50% Retinopathy 50% Scoliosis 50% Short stature 50% Sleep disturbance 50% Thick lower lip vermilion 50% C1-C2 subluxation 38% Abnormal pyramidal signs 7.5% Abnormality of skin pigmentation 7.5% Coronary artery disease 7.5% Decreased nerve conduction velocity 7.5% Hemiplegia/hemiparesis 7.5% Spinal canal stenosis 7.5% Retinal degeneration 5% Mitral regurgitation 10/12 Aortic regurgitation 4/12 Recurrent respiratory infections 4/12 Endocardial fibroelastosis 11/58 Abnormal CNS myelination - Autosomal recessive inheritance - Biconcave vertebral bodies - Broad nasal tip - Calvarial hyperostosis - Cardiomyopathy - Coxa valga - Diaphyseal thickening - Dysostosis multiplex - Flared iliac wings - Flexion contracture - Gingival overgrowth - Hepatosplenomegaly - Hirsutism - Hypoplasia of the femoral head - Hypoplasia of the odontoid process - Inguinal hernia - Intellectual disability - Joint stiffness - J-shaped sella turcica - Kyphosis - Macrocephaly - Microdontia - Neurodegeneration - Progressive neurologic deterioration - Short clavicles - Thick vermilion border - Umbilical hernia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) 15q13.3 microduplication syndrome ? | 15q13.3 microduplication syndrome is a rare chromosome abnormality first described in 2009. Since only a small number of individuals with this microduplication have been reported, the full range of effects is still being discovered. What is known is that the symptoms are variable, even between members of the same family. While some people with this microduplication do not have symptoms, several features seem to be common, including delayed development, intellectual disability, communication difficulties, emotional and behavioral problems (including autistic spectrum disorders), insomnia, and seizures. 15q13.3 microduplication syndrome is caused by a tiny duplication (microduplication) on the long arm of chromosome 15 that spans at least 6 genes. The features of this syndrome are thought to be caused by the presence of three copies of the genes in this region, instead of the normal two. However, it is unclear which genes contribute to the specific features. In addition, it is likely that other genetic or environmental factors influence the symptoms seen in this condition. Some cases of 15q13.3 microduplication syndrome are inherited in an autosomal dominant manner with reduced penetrance. Other cases are new (de novo). Treatment typically focuses on treating the symptoms (such as medication for seizures). | |
What are the symptoms of Renal dysplasia diffuse cystic ? | What are the signs and symptoms of Renal dysplasia diffuse cystic? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal dysplasia diffuse cystic. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Vesicoureteral reflux 5% Autosomal dominant inheritance - Autosomal recessive inheritance - Congenital onset - Cystic renal dysplasia - Hyperechogenic kidneys - Pulmonary hypoplasia - Renal dysplasia - Renal insufficiency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Torsion dystonia with onset in infancy ? | What are the signs and symptoms of Torsion dystonia with onset in infancy? The Human Phenotype Ontology provides the following list of signs and symptoms for Torsion dystonia with onset in infancy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Infantile onset - Torsion dystonia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Histiocytosis-lymphadenopathy plus syndrome ? | Histiocytosis-lymphadenopathy plus syndrome is a group of conditions with overlapping signs and symptoms that affect many parts of the body. This group of disorders includes H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID), Faisalabad histiocytosis, and familial Rosai-Dorfman disease (also known as familial sinus histiocytosis with massive lymphadenopathy or FSHML). These conditions were once thought to be distinct disorders; however, because of the overlapping features and shared genetic cause, they are now considered to be part of the same disease spectrum. While some affected individuals have signs and symptoms characteristic of one of these conditions, others have a range of features from two or more of the conditions. The pattern of signs and symptoms can vary, even within the same family. All of the conditions in the spectrum are characterized by histiocytosis, which is an overgrowth of immune system cells called histiocytes. These cells abnormally accumulate in one or more tissues in the body, which can lead to organ or tissue damage. The lymph nodes are commonly affected, leading to swelling of the lymph nodes (lymphadenopathy). Other areas of cell accumulation can include skin, kidneys, brain and spinal cord (central nervous system), or digestive tract. The spectrum is known as histiocytosis-lymphadenoapthy plus syndrome because the disorders that make up the spectrum can have additional signs and symptoms. H syndrome is named for the collection of symptoms - all starting with the letter H - that are commonly present. These include hyperpigmented skin lesions with excessive hair growth (hypertrichosis) and histiocyte accumulation, enlargement of the liver or liver and spleen (hepatomegaly or hepatosplenomegaly), heart abnormalities, hearing loss, reduced amounts of hormones that direct sexual development (hypogonadism), and short stature (reduced height). In some cases, hyperglycemia/diabetes mellitus may also be present. PHID is characterized by patches of hyperpigmented skin with hypertrichosis and the development of type 1 diabetes during childhood. Faisalabad histiocytosis is characterized by lymphadenopathy and swelling of the eyelids due to the accumulation of histiocytes. Affected individuals may also have joint deformities (contractures) in their fingers or toes, and hearing loss. Familial Rosai-Dorfman disease is characterized by lymphadenopathy, most often in the neck. Histiocytes can also accumulate in other parts of the body. Histiocytosis-lymphadenopathy plus syndrome is caused by mutations in the SLC29A3 gene. The condition is inherited in an autosomal recessive pattern. Treatment is aimed at treating the symptoms present in each individual. | |
What are the symptoms of Histiocytosis-lymphadenopathy plus syndrome ? | What are the signs and symptoms of Histiocytosis-lymphadenopathy plus syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Histiocytosis-lymphadenopathy plus syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Atria septal defect 5% Cardiomegaly 5% Mitral valve prolapse 5% Retroperitoneal fibrosis 5% Ventricular septal defect 5% Autosomal recessive inheritance - Camptodactyly - Clinodactyly - Diabetes mellitus - Elbow flexion contracture - Episcleritis - Fever - Growth hormone deficiency - Hallux valgus - Hepatomegaly - Histiocytosis - Hypergonadotropic hypogonadism - Lymphadenopathy - Phenotypic variability - Proptosis - Sensorineural hearing impairment - Short stature - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Neurofaciodigitorenal syndrome ? | What are the signs and symptoms of Neurofaciodigitorenal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Neurofaciodigitorenal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the antitragus 90% Abnormality of the metacarpal bones 90% Abnormality of the tragus 90% Atresia of the external auditory canal 90% Cognitive impairment 90% Frontal bossing 90% Intrauterine growth retardation 90% Large earlobe 90% Low-set, posteriorly rotated ears 90% Malar flattening 90% Midline defect of the nose 90% Muscular hypotonia 90% Prominent nasal bridge 90% Short stature 90% Triphalangeal thumb 90% Abnormality of the distal phalanx of finger 50% Abnormality of the elbow 50% Abnormality of the philtrum 50% Corneal dystrophy 50% Cryptorchidism 50% Epicanthus 50% Hypertelorism 50% Mandibular prognathia 50% Pectus excavatum 50% Plagiocephaly 50% Ptosis 50% Renal hypoplasia/aplasia 50% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Bifid nose - EEG abnormality - Intellectual disability - Prominent forehead - Unilateral renal agenesis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Maffucci syndrome ? | Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas (benign enlargements of cartilage), bone deformities, and hemangiomas (tangles of abnormal of blood vessels). The abnormal growths associated with Maffucci syndrome may become cancerous (malignant). In particular, affected individuals may develop bone cancers called chondrosarcomas, especially in the skull. They also have an increased risk of other cancers, such as ovarian or liver cancer. The underlying cause of Maffucci syndrome is unknown. No specific genes related to this disorder have been identified. Researchers suggest that the condition may be associated with abnormalities occurring before birth in the development of two embryonic cell layers called the ectoderm and the mesoderm. | |
What are the symptoms of Maffucci syndrome ? | What are the signs and symptoms of Maffucci syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Maffucci syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metaphyses 90% Abnormality of the skin 90% Cavernous hemangioma 90% Lower limb asymmetry 90% Micromelia 90% Multiple enchondromatosis 90% Osteolysis 90% Recurrent fractures 90% Thrombophlebitis 90% Visceral angiomatosis 90% Abnormal joint morphology 50% Bone pain 50% Exostoses 50% Limitation of joint mobility 50% Scoliosis 50% Short stature 50% Abnormality of coagulation 7.5% Anemia 7.5% Cerebral palsy 7.5% Cranial nerve paralysis 7.5% Feeding difficulties in infancy 7.5% Goiter 7.5% Lymphangioma 7.5% Neoplasm of the adrenal gland 7.5% Neoplasm of the breast 7.5% Neoplasm of the nervous system 7.5% Neoplasm of the parathyroid gland 7.5% Ovarian neoplasm 7.5% Platyspondyly 7.5% Precocious puberty 7.5% Respiratory insufficiency 7.5% Sarcoma 7.5% Skin ulcer 7.5% Chondrosarcoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the treatments for Maffucci syndrome ? | How might Maffucci syndrome be treated? Management aims at relief of symptoms and early detection of malignancies. Individuals with Maffucci syndrome may benefit from consultations with the following specialists: Radiologist: Radiography or CT scanning performed periodically to evaluate bone changes. Orthopedic surgeon: An orthopedic surgeon may be consulted to evaluate bone changes and skeletal neoplasms and to help in treatment of fractures associated with the disease. Dermatologist: A dermatologist may be consulted to evaluate hemangiomas associated with the condition and to identify any new lesions on the skin. |
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