Contexts stringlengths 0 32.3k | Questions stringlengths 14 191 | Answers stringlengths 6 29k ⌀ |
|---|---|---|
What are the treatments for Sturge-Weber syndrome ? | What are some of the benefits and risks of laser treatment for port-wine stains associated with Sturge-Weber syndrome? Pulsed dye laser (PDL) remains the treatment of choice for the majority of children with a port-wine stain (PWS). Laser treatment of port-wine stains may produce good cosmetic results, with a low incidence of adverse skin changes and other side effects. A major benefit of laser treatment for a PWS is that it can help to minimize psychological problems associated with the social consequences of having a PWS. It has been shown that large facial port-wine stains are associated with an increase in mood and social problems in children older than 10 years of age.Most experts agree that there is little risk associated with the use of PDL in a child with Sturge-Weber syndrome (SWS), provided that anticonvulsant therapy is maintained and that adequate care is taken. The level of pain associated with laser treatment varies. Management of anesthesia should be carefully planned to minimize the potential for secondary effects. Few children with SWS achieve complete clearance of their PWS with laser treatment; PDL does have limitations when large areas or dermatomal patterns are involved. | |
What are the symptoms of Sonoda syndrome ? | What are the signs and symptoms of Sonoda syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sonoda 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) Abnormal dermatoglyphics 90% Abnormality of the oral cavity 90% Anteverted nares 90% Depressed nasal ridge 90% Generalized hyperpigmentation 90% Hypopigmentation of hair 90% Narrow mouth 90% Round face 90% Short nose 90% Short stature 90% Displacement of the external urethral meatus 50% Autosomal recessive inheritance - Depressed nasal bridge - High axial triradius - Intellectual disability - Ventricular septal defect - 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 Microsomia hemifacial radial defects ? | What are the signs and symptoms of Microsomia hemifacial radial defects? The Human Phenotype Ontology provides the following list of signs and symptoms for Microsomia hemifacial radial defects. 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) Aplasia/Hypoplasia of the radius 90% Aplasia/Hypoplasia of the thumb 90% Facial asymmetry 90% Atresia of the external auditory canal 50% Cognitive impairment 50% Complete atrioventricular canal defect 50% Preauricular skin tag 50% Renal hypoplasia/aplasia 50% Sacrococcygeal pilonidal abnormality 50% Sensorineural hearing impairment 50% Short stature 50% Vertebral segmentation defect 50% Abnormality of the genital system 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the lungs 7.5% Cleft eyelid 7.5% Cleft palate 7.5% Conductive hearing impairment 7.5% Ectopic anus 7.5% Maternal diabetes 7.5% Non-midline cleft lip 7.5% Preaxial hand polydactyly 7.5% Triphalangeal thumb 7.5% Wide mouth 7.5% Autosomal dominant inheritance - Complete duplication of thumb phalanx - Microtia - Preauricular pit - Short mandibular rami - 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) Congenital mirror movement disorder ? | Congenital mirror movement disorder (CMM) is a rare condition that is characterized by mirror movements (involuntary movements of one side of the body that mirror intentional movements on the opposite side). Affected people generally develop these movements in infancy or early childhood, which usually persist throughout their life without any related signs or symptoms. In most cases, the involuntary movements are noticeable but less pronounced than the corresponding voluntary movements; however, the severity of symptoms can vary significantly, even among family members. CMM can be caused by changes (mutations) in the DCC or RAD51 genes and inherited in an autosomal dominant manner. In some families, the exact underlying cause of CMM is unknown. | |
What are the symptoms of Congenital mirror movement disorder ? | What are the signs and symptoms of Congenital mirror movement disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital mirror movement disorder. 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) Incomplete penetrance 50% Autosomal dominant inheritance - Bimanual synkinesia - 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) Marshall syndrome ? | Marshall syndrome is an inherited condition characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and early-onset arthritis. Those with Marshall syndrome can also have short stature. Some researchers have argued that Marshall syndrome represents a variant form of Stickler syndrome; but this remains controversial. Marshall syndrome is caused by mutations in the COL11A1 gene and is inherited in an autosomal dominant fashion. | |
What are the symptoms of Marshall syndrome ? | What are the signs and symptoms of Marshall syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Marshall 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) Anteverted nares 90% Aplasia/Hypoplasia involving the nose 90% Arthralgia 90% Depressed nasal bridge 90% Hypertelorism 90% Hypoplasia of the zygomatic bone 90% Long philtrum 90% Malar flattening 90% Myopia 90% Sensorineural hearing impairment 90% Short stature 90% Thick lower lip vermilion 90% Abnormal hair quantity 50% Abnormality of the vitreous humor 50% Cleft palate 50% Craniofacial hyperostosis 50% Genu valgum 50% Glaucoma 50% Hypohidrosis 50% Osteoarthritis 50% Proptosis 50% Retinal detachment 50% Visual impairment 50% Aplasia/Hypoplasia of the eyebrow 7.5% Frontal bossing 7.5% Nystagmus 7.5% Absent frontal sinuses - Autosomal dominant inheritance - Calcification of falx cerebri - Congenital cataract - Coxa valga - Epicanthus - Esotropia - Flat midface - Hypoplastic ilia - Irregular distal femoral epiphysis - Irregular proximal tibial epiphyses - Lens luxation - Low-set ears - Macrodontia of permanent maxillary central incisor - Meningeal calcification - Pierre-Robin sequence - Platyspondyly - Radial bowing - Short nose - Small distal femoral epiphysis - Small proximal tibial epiphyses - Thick upper lip vermilion - Thickened calvaria - Ulnar bowing - Vitreoretinal degeneration - Wide tufts of distal phalanges - 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) Familial hemiplegic migraine type 3 ? | Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and may last from a few hours to a few days. People with familial hemiplegic migraine experience an aura that comes before the headache. The most common symptoms associated with an aura are temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. In people with familial hemiplegic migraine, auras are also characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). An aura typically develops gradually over a few minutes and lasts about an hour. Researchers have identified three forms of familial hemiplegic migraine known as FHM1, FHM2, and FHM3. Each of the three types is caused by mutations in a different gene. | |
What are the symptoms of Familial hemiplegic migraine type 3 ? | What are the signs and symptoms of Familial hemiplegic migraine type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hemiplegic migraine type 3. 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 movement 90% Hemiplegia/hemiparesis 90% Incoordination 50% Nystagmus 50% Abnormality of retinal pigmentation 7.5% EEG abnormality 7.5% Neurological speech impairment 7.5% Sensorineural hearing impairment 7.5% Autosomal dominant inheritance - Blindness - Hemiparesis - Hemiplegia - Migraine with aura - Photophobia - 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 are the symptoms of Bardet-Biedl syndrome 7 ? | What are the signs and symptoms of Bardet-Biedl syndrome 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 7. 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 is (are) Gray zone lymphoma ? | Gray zone lymphoma is a cancer of the immune system. The name of this lymphoma refers to the fact that cancer cells in this condition are in a "gray zone" (an uncertain category) because they appear similar to that of two other types of lymphoma, classical Hodgkin lymphoma and mediastinal large B-cell lymphoma. Because features of gray zone lymphoma overlap with these two other types of lymphoma, diagnosing this condition can be difficult. Gray zone lymphoma is most often diagnosed in young adults when an unusual lump (mass) is found in the chest in the space between the lungs (mediastinum). This condition affects men and women equally. | |
What are the treatments for Gray zone lymphoma ? | How might gray zone lymphoma be treated? Gray zone lymphoma shares features with two other types of lymphoma, classical Hodgkin lymphoma (cHL) and mediastinal large B-cell lymphoma (MLBCL). Because MLBCL and cHL are treated differently, it is unclear how gray zone lymphoma should be treated. At this time, there are no guidelines for the best treatment of gray zone lymphoma; treatment is determined based on each individual's diagnosis. Treatment usually begins with chemotherapy, which may be followed by radiation therapy in some cases. | |
What are the symptoms of Paralysis agitans, juvenile, of Hunt ? | What are the signs and symptoms of Paralysis agitans, juvenile, of Hunt? The Human Phenotype Ontology provides the following list of signs and symptoms for Paralysis agitans, juvenile, of Hunt. 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 metabolism/homeostasis - Autosomal dominant inheritance - Bradykinesia - Dysarthria - Gait disturbance - Mask-like facies - Parkinsonism - Rigidity - Slow progression - Tremor - 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) Severe intellectual disability-progressive spastic diplegia syndrome ? | Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability . Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person. | |
What are the symptoms of Severe intellectual disability-progressive spastic diplegia syndrome ? | What are the signs and symptoms of Severe intellectual disability-progressive spastic diplegia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe intellectual disability-progressive spastic diplegia 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) Hypoplasia of the corpus callosum - Intellectual disability - Microcephaly - Muscular hypotonia - Spastic diplegia - 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 Epilepsy progressive myoclonic type 3 ? | What are the signs and symptoms of Epilepsy progressive myoclonic type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Epilepsy progressive myoclonic type 3. 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) Cerebellar atrophy 5% Cerebral atrophy 5% Hypoplasia of the corpus callosum 5% Microcephaly 5% Visual loss 5% Autosomal recessive inheritance - Dysarthria - Fingerprint intracellular accumulation of autofluorescent lipopigment storage material - Generalized myoclonic seizures - Intellectual disability - Progressive - Truncal 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. | |
What is (are) Charcot-Marie-Tooth disease ? | Charcot-Marie-Tooth disease is a group of disorders that affect the peripheral nerves, the nerves running from outside the brain and spine. Defects in many different genes cause different forms of this disease. Common symptoms may include foot drop, foot deformity, loss of lower leg muscle, numbness in the foot or leg, slapping" gait (feet hit the floor hard when walking), and weakness of the hips, legs, or feet. There is currently no cure for Charcot-Marie-Tooth disease, but physical therapy, occupational therapy, braces and other orthopedic devices, pain medication, and orthopedic surgery can help manage and improve symptoms. There are over 40 types of Charcot-Marie-Tooth disease. You can search for more information on a particular type of Charcot-Marie-Tooth disease from the GARD Home page. Enter the name of the condition in the GARD search box, and then select the type from the drop down menu. | |
What are the symptoms of Charcot-Marie-Tooth disease ? | What are the signs and symptoms of Charcot-Marie-Tooth disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth 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 pharynx 90% Abnormality of the voice 90% Decreased nerve conduction velocity 90% EMG abnormality 90% Gait disturbance 90% Hemiplegia/hemiparesis 90% Impaired pain sensation 90% Incoordination 90% Kyphosis 90% Laryngomalacia 90% Scoliosis 90% Skeletal muscle atrophy 90% 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 Bone dysplasia lethal Holmgren type ? | What are the signs and symptoms of Bone dysplasia lethal Holmgren type? The Human Phenotype Ontology provides the following list of signs and symptoms for Bone dysplasia lethal Holmgren 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 the femur 90% Abnormality of the ribs 90% Micromelia 90% Narrow chest 90% Short stature 90% Skeletal dysplasia 90% Weight loss 90% Abnormal diaphysis morphology 50% Abnormality of epiphysis morphology 50% Abnormality of the elbow 50% Abnormality of the metaphyses 50% Abnormality of the thumb 50% Anteverted nares 50% Depressed nasal ridge 50% Frontal bossing 50% Hearing abnormality 50% High forehead 50% Joint dislocation 50% Joint hypermobility 50% Malar flattening 50% Muscular hypotonia 50% Short neck 50% Abnormality of the skin 7.5% Anemia 7.5% Atria septal defect 7.5% Diarrhea 7.5% Hepatomegaly 7.5% Hernia 7.5% Hypertrophic cardiomyopathy 7.5% Nausea and vomiting 7.5% Patent ductus arteriosus 7.5% Recurrent respiratory infections 7.5% Respiratory insufficiency 7.5% Talipes 7.5% Thickened nuchal skin fold 7.5% Autosomal recessive inheritance - Bell-shaped thorax - Short ribs - 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) Neuronal ceroid lipofuscinosis ? | Neuronal ceroid lipofuscinosis (NCL) refers to a group of conditions that affect the nervous system. Signs and symptoms vary widely between the forms but generally include a combination of dementia, vision loss, and epilepsy. Although the NCLs were historically classified according to their age of onset and clinical features, the most recent classification system is primarily based on their underlying genetic cause. Most forms are inherited in an autosomal recessive manner; however, autosomal dominant inheritance has been reported in one adult-onset form (neuronal ceroid lipofuscinosis 4B). Treatment options are limited to therapies that can help relieve some of the symptoms. | |
What are the symptoms of Neuronal ceroid lipofuscinosis ? | What are the signs and symptoms of Neuronal ceroid lipofuscinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuronal ceroid lipofuscinosis. 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 the retinal vasculature 90% Cognitive impairment 90% EEG abnormality 90% Muscular hypotonia 90% Ocular albinism 90% Seizures 90% Visual impairment 90% Abnormality of metabolism/homeostasis 50% Abnormality of movement 50% Developmental regression 50% Neurological speech impairment 50% Optic atrophy 50% Behavioral abnormality 7.5% Incoordination 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 Hirschsprung disease type 3 ? | What are the signs and symptoms of Hirschsprung disease type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Hirschsprung disease type 3. 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) Aganglionic megacolon - Autosomal 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 are the symptoms of Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech ? | What are the signs and symptoms of Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech. 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) Anterior scalloping of vertebral bodies - Anteverted nares - Autosomal dominant inheritance - Blepharophimosis - Brachydactyly syndrome - Carpal bone hypoplasia - Coarse facial features - Cubitus valgus - Cuboid-shaped vertebral bodies - Curly eyelashes - Delayed epiphyseal ossification - Depressed nasal bridge - Flexion contracture - High pitched voice - Hoarse voice - Hypoplasia of midface - Hypoplastic iliac wing - Long philtrum - Malar flattening - Microtia - Pectus excavatum - Platyspondyly - Postnatal growth retardation - Restrictive lung disease - Rhizo-meso-acromelic limb shortening - Round face - Short foot - Short long bone - Short metacarpal - Short neck - Short palm - Short phalanx of finger - Short toe - Single interphalangeal crease of fifth finger - Small epiphyses - Spondyloepiphyseal dysplasia - Tapered metacarpals - Tapered phalanx of finger - Thick lower lip vermilion - Thick upper lip vermilion - Thoracic hypoplasia - Upslanted palpebral fissure - Wide mouth - 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 is (are) Spondylocostal dysostosis 4 ? | Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. These bone malformations lead to short, rigid necks and short midsections. Infants with spondylocostal dysostosis have small, narrow chests that cannot fully expand. This can lead to life-threatening breathing problems. Males with this condition are at an increased risk for inguinal hernia, where the diaphragm is pushed down, causing the abdomen to bulge out. There are several types of spondylocostal dysostosis. These types have similar features and are distinguished by their genetic cause and how they are inherited. Spondylocostal dysostosis 4 is caused by mutations in the HES7 gene. It is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive and may include respiratory support and surgery to correct inguinal hernia and scoliosis. | |
What are the symptoms of Spondylocostal dysostosis 4 ? | What are the signs and symptoms of Spondylocostal dysostosis 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocostal dysostosis 4. 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 form of the vertebral bodies 90% Abnormality of immune system physiology 90% Abnormality of the intervertebral disk 90% Abnormality of the ribs 90% Intrauterine growth retardation 90% Respiratory insufficiency 90% Scoliosis 90% Short neck 90% Short stature 90% Short thorax 90% Vertebral segmentation defect 90% Kyphosis 50% Abnormality of female internal genitalia 7.5% Abnormality of the ureter 7.5% Anomalous pulmonary venous return 7.5% Anteverted nares 7.5% Broad forehead 7.5% Camptodactyly of finger 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Congenital diaphragmatic hernia 7.5% Cryptorchidism 7.5% Depressed nasal bridge 7.5% Displacement of the external urethral meatus 7.5% Finger syndactyly 7.5% Long philtrum 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Meningocele 7.5% Microcephaly 7.5% Prominent occiput 7.5% Spina bifida occulta 7.5% Umbilical hernia 7.5% Urogenital fistula 7.5% Abnormality of the odontoid process - Autosomal recessive inheritance - Block vertebrae - Hemivertebrae - Missing ribs - Myelomeningocele - Restrictive respiratory insufficiency - Rib fusion - Situs inversus totalis - Unilateral vertebral artery hypoplasia - 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) Subcortical band heterotopia ? | Subcortical band heterotopia, also known as double cortex syndrome, is a condition of abnormal brain development that is present from birth. This condition which primarily affects females, occurs when neurons migrate to an area of the brain where they are not supposed to be (heterotopia), and form abnormal areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex (subcortical), creating the appearance of a double cortex. Symptoms associated with subcortical band heterotopia vary from severe intellectual disability and epilepsy to normal intelligence with mild or no epilepsy. Subcortical band heterotopia is most often caused by mutations in the DCX gene. The condition is inherited in an X-linked dominant pattern. Some cases may be caused by a small deletion on chromosome 17 involving the LIS1 gene. Management consists of seizure control. | |
What are the symptoms of Subcortical band heterotopia ? | What are the signs and symptoms of Subcortical band heterotopia? The Human Phenotype Ontology provides the following list of signs and symptoms for Subcortical band heterotopia. 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% Hypertonia 50% Muscular hypotonia 50% Agenesis of corpus callosum - Ataxia - Death in infancy - Dysarthria - Incomplete penetrance - Infantile onset - Intellectual disability - Lissencephaly - Micropenis - Motor delay - Muscular hypotonia of the trunk - Nystagmus - Pachygyria - Postnatal growth retardation - 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 Amyloidosis familial visceral ? | What are the signs and symptoms of Amyloidosis familial visceral? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyloidosis familial visceral. 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 - Cholestasis - Edema - Generalized amyloid deposition - Hematuria - Hepatomegaly - Hypertension - Nephropathy - Nephrotic syndrome - Proteinuria - Skin rash - 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 is (are) Facioscapulohumeral muscular dystrophy ? | Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). This condition gets its name from the areas of the body that are affected most often: muscles in the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral). The signs and symptoms of facioscapulohumeral muscular dystrophy usually appear in adolescence. However, the onset and severity of the condition varies widely. Facioscapulohumeral muscular dystrophy results from a deletion of genetic material from a region of DNA known as D4Z4. This region is located near one end of chromosome 4. It is inherited in an autosomal dominant pattern. | |
What are the symptoms of Facioscapulohumeral muscular dystrophy ? | What are the signs and symptoms of Facioscapulohumeral muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Facioscapulohumeral muscular dystrophy. 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) EMG abnormality 90% Hyperlordosis 90% Mask-like facies 90% Skeletal muscle atrophy 90% Abnormality of the eyelashes 50% Palpebral edema 50% Sensorineural hearing impairment 50% Abnormality of the retinal vasculature 7.5% Dysphagia 5% Abdominal wall muscle weakness - Autosomal dominant inheritance - Calf muscle hypertrophy - Childhood onset - Elevated serum creatine phosphokinase - External ophthalmoplegia - Exudative retinal detachment - Facial palsy - Intellectual disability - Restrictive respiratory insufficiency - Retinal telangiectasia - Scapular winging - Scapulohumeral muscular dystrophy - Seizures - Shoulder girdle muscle atrophy - Shoulder girdle muscle weakness - Slow progression - Tongue atrophy - 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) Platelet storage pool deficiency ? | Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation; easy bruising; recurrent anemia; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic. | |
What are the symptoms of Platelet storage pool deficiency ? | What are the signs and symptoms of Platelet storage pool deficiency? The signs and symptoms of platelet storage pool deficiency vary but may include: Frequent nosebleeds Abnormally heavy or prolonged menstruation Easy bruising Recurrent anemia Abnormal bleeding after surgery, dental work or childbirth The Human Phenotype Ontology provides the following list of signs and symptoms for Platelet storage pool 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) Abnormal bleeding - Acute leukemia - Autosomal dominant inheritance - Decreased mean platelet volume - Myelodysplasia - Prolonged bleeding time - 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 Platelet storage pool deficiency ? | What causes platelet storage pool deficiency? Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Some platelet storage pool deficiencies are due to reduced or absent granules or granule contents. Others occur if the platelets are unable to empty the contents of the platelet granules into the bloodstream. Platelet storage pool deficiencies can be genetic or acquired (non-genetic). The four major genetic forms include dense body deficiency, gray platelet syndrome, Factor V Quebec, and mixed alpha-granule/dense body deficiency. Platelet storage pool deficiency is also a feature of several inherited conditions such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Causes of acquired platelet storage pool deficiencies include: Systemic lupus erythematosus Cardiovascular bypass Hairy-cell leukemia | |
Is Platelet storage pool deficiency inherited ? | Is platelet storage pool deficiency inherited? Platelet storage pool deficiency refers to a group of conditions that can be acquired (non-inherited) or inherited. Hereditary forms of the condition may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. In autosomal dominant conditions, one changed (mutated) copy of the responsible gene in each cell is enough to cause signs or symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene from the affected parent. When a condition is inherited in an autosomal recessive manner, a person must have a change in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). Women have two X chromosomes and men have an X and a Y chromosome. X-linked conditions can be X-linked dominant or X-linked recessive. The inheritance is X-linked dominant if one copy of the altered gene in each cell is sufficient to cause the condition. Women with an X-linked dominant condition have a 50% chance of passing the condition on to a son or a daughter with each pregnancy. Men with an X-linked dominant condition will pass the condition on to all of their daughters and none of their sons. The inheritance is X-linked recessive if a gene on the X chromosome causes the condition in men with one gene mutation (they have only one X chromosome) and in females with two gene mutations (they have two X chromosomes). A woman with an X-linked condition will pass the mutation on to all of her sons and daughters. This means that all of her sons will have the condition and all of her daughters will be carriers. A man with an X-linked recessive condition will pass the mutation to all of his daughters (carriers) and none of his sons. | |
How to diagnose Platelet storage pool deficiency ? | How is platelet storage pool deficiency diagnosed? A diagnosis of platelet storage pool deficiency is often suspected based on the presence of characteristic signs and symptoms. Specialized laboratory tests can then be ordered to confirm the diagnosis. This testing may include: Bleeding time studies Platelet aggregation studies Peripheral blood smear Flow cytometry (detects a reduction in certain types of granules in affected platelets) | |
What are the treatments for Platelet storage pool deficiency ? | How might platelet storage pool deficiency be treated? Treatment for platelet storage pool deficiency is symptomatic. For example, people who have severe episodes of bleeding may require platelet transfusions or antifibrinolytic medications, particularly during periods of high risk such as during surgical procedures or after an injury. Transfusions are generally used with caution as the potential risks often outweigh the benefits when bleeding is not life-threatening. People with a platelet storage pool deficiency should avoid antiplatelet drugs such as aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDS). | |
What is (are) Barber Say syndrome ? | Barber Say syndrome is a very rare condition characterized by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It has been described in less than 20 patients in the medical literature. Barber Say syndrome has a variable presentation, with reports of both mild and severe cases. Inheritance has been debated, with qualities suggestive of autosomal dominant and autosomal recessive. A recent study suggests that at least some cases of Barber Say syndrome are caused by dominant mutations in the TWIST2 gene. Treatment remains a challenge for both patients and doctors, and requires a multidisciplinary approach. | |
What are the symptoms of Barber Say syndrome ? | What are the signs and symptoms of Barber Say syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Barber Say 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% Anteverted nares 90% Aplasia/Hypoplasia of the eyebrow 90% Cutis laxa 90% Delayed eruption of teeth 90% Hearing abnormality 90% Hypertelorism 90% Hypertrichosis 90% Telecanthus 90% Wide mouth 90% Aplasia/Hypoplasia of the nipples 50% Breast aplasia 50% Hyperextensible skin 50% Atresia of the external auditory canal 7.5% External ear malformation 7.5% Shawl scrotum 7.5% High palate 5% Intellectual disability 5% Abnormality of female external genitalia - Abnormality of male external genitalia - Abnormality of the pinna - Autosomal dominant inheritance - Bulbous nose - Dermal atrophy - Dry skin - Ectropion - Hearing impairment - Hypoplastic nipples - Low-set ears - Mandibular prognathia - Redundant skin - Sparse eyebrow - Thin vermilion border - Underdeveloped nasal alae - 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) Barrett esophagus ? | Barrett esophagus is a condition in which the lining of the esophagus (the tube that carries food from the throat to the stomach) is replaced by tissue that is similar to the lining of the intestines. Although this change does not cause any specific signs or symptoms, it is typically diagnosed in people who have long-term gastroesophageal reflux disease (GERD). The exact underlying cause of Barrett esophagus is not known; however, it generally occurs sporadically in people with no family history of the condition. Treatment varies by the severity of the condition and generally includes medications and life style modifications to ease the symptoms of GERD. Endoscopic or surgical treatments may be recommended in people with severe cases. | |
What are the symptoms of Barrett esophagus ? | What are the signs and symptoms of Barrett esophagus? In people affected by Barrett esophagus, the tissue lining the esophagus (the tube connecting the mouth to the stomach) is replaced by cells that are similar to those found in the lining of the intestines. This change does not cause any specific signs or symptoms. However, Barrett esophagus is typically diagnosed in people who have long-term gastroesophageal reflux disease (GERD). GERD may be associated with symptoms such as frequent heartburn, difficulty swallowing food, and/or chest pain (less commonly). People with Barrett esophagus do have a greater risk than the general population of developing esophageal cancer. However, the overall risk is still low as less than 0.5 percent of people with Barrett esophagus develop cancer of the esophagus each year. The Human Phenotype Ontology provides the following list of signs and symptoms for Barrett esophagus. 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 abdominal organs 90% Neoplasm 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 causes Barrett esophagus ? | What causes Barrett esophagus? The exact underlying cause of Barrett esophagus is unknown. However, certain factors are known to increase the risk of developing the condition. These include: Long-standing gastroesophageal reflux disease (GERD) Obesity (specifically high levels of belly fat) Smoking Factors that may decrease the risk include having a Helicobacter pylori (H. pylori) infection; frequent use of aspirin or other nonsteroidal anti-inflammatory drugs; and a diet high in fruits, vegetables, and certain vitamins. | |
Is Barrett esophagus inherited ? | Is Barrett esophagus inherited? Barrett esophagus usually occurs sporadically in people with no family history of the condition. In rare cases, it can affect more than one family member; however, it is unclear whether these cases are due to common environmental exposures or an inherited predisposition (or a combination of the two). One study found that some people with Barrett esophagus who go on to develop esophageal adenocarcinoma have changes (mutations) in the MSR1, ASCC1, and/or CTHRC1 genes. However, additional studies are needed to confirm these findings. | |
How to diagnose Barrett esophagus ? | How is Barrett esophagus diagnosed? Esophagogastroduodenoscopy (EGD) with a biopsy is the procedure of choice for confirming a diagnosis of Barret esophagus. A diagnosis is often made while investigating other conditions such as gastroesophageal reflux disease (GERD). Based on the biopsy, a doctor will be able to determine the severity of the condition, which can help inform treatment decisions. The sample may be classified as: No dysplasia - a diagnosis of Barrett's esophagus is confirmed, but no precancerous changes are found in the cells Low-grade dysplasia - the cells show small signs of precancerous changes High-grade dysplasia - the cells show many precancerous changes. This is thought to be the final step before cells change into esophageal cancer The National Institute of Diabetes and Digestive and Kidney Diseases' (NIDDK) Web site offers more specific information on the diagnosis of Barret esophagus. Please click on the link to access this resource. | |
What are the treatments for Barrett esophagus ? | How might Barrett esophagus be treated? The treatment of Barrett esophagus largely depends on the severity of the condition as determined by the level of dysplasia seen on biopsy. In people with no dysplasia or low-grade dysplasia, treatment is often focused on easing the signs and symptoms of gastroesophageal reflux disease (GERD), which can cause further damage to the esophagus. This may include certain medications and lifestyle modifications such as avoiding smoking; eliminating food and drinks that trigger heartburn; raising the head of the bed while sleeping; and/or avoiding late night snacking. Periodic endoscopy may also be recommended to monitor Barrett esophagus as other treatments may be indicated if the condition advances. Because high-grade dysplasia is thought to be the final step before cells change into esophageal cancer, more aggressive treatments are typically recommended. These may include:[ Endoscopic resection - an endoscope is used to remove damaged cells Endoscopic ablative therapies - different techniques such as photodynamic therapy or radiofrequency ablation are used to destroy the dysplasia in the esophagus. In photodynamic therapy, abnormal cells are destroyed by making them sensitive to light, while radiofrequency ablation uses heat to remove abnormal esophagus tissue. Surgery - the damaged part of the esophagus is removed and the remaining portion is attached to the stomach The National Institute of Diabetes and Digestive and Kidney Diseases' (NIDDK) Web site offers more specific information on the treatment and management of Barret esophagus. Please click on the link to access this resource. | |
What is (are) Light chain deposition disease ? | Light chain deposition disease (LCDD) involves the immune system, the body's system of protecting ourselves against infection. The body fights infection with antibodies. Antibodies are made up of small protein segments called light chains and heavy chains. People with LCDD make too many light chains which get deposited in many different tissues and organs of the body. While LCDD can occur in any organ, the kidneys are always involved. Deposits of light chains can also occur in the liver, heart, small intestine, spleen, skin, nervous system and bone marrow. Additionally, about 50-60% of patients with LCDD have multiple myeloma and 17% have a disease called monoclonal gammopathy of unknown significance (MGUS). Early signs and symptoms of light chain deposition disease may include protein in the urine, high blood pressure, decreased kidney function, and nephrotic syndrome. The goal of treatment in patients with LCDD is to stop/decrease the production of light chains and damage to organs. Treatment options can include: autologous stem cell transplantation; a drug called Bortezomib; a class of drugs called immunomodulatory drugs; and kidney transplant. | |
Is Light chain deposition disease inherited ? | Is light chain deposition disease a genetic/inheritable disease? Currently, we are not aware of inherited genes or genetic factors that would increase a persons risk for developing light chain deposition disease. You can read more about risk factors for multiple myeloma and monoclonal gammopathy of undetermined significance at the following links to the MayoClinic.com Website. Multiple myeloma risk factors: http://www.mayoclinic.com/health/multiple-myeloma/DS00415/DSECTION=risk-factors Monoclonal gammopathy of undetermined significance risk factors: http://www.mayoclinic.com/health/multiple-myeloma/DS00415/DSECTION=risk-factors | |
What are the symptoms of Familial eosinophilia ? | What are the signs and symptoms of Familial eosinophilia? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial eosinophilia. 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 - Eosinophilia - 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 Absent patella ? | What are the signs and symptoms of Absent patella? The Human Phenotype Ontology provides the following list of signs and symptoms for Absent patella. 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 skin - Autosomal dominant inheritance - Patellar aplasia - Patellar hypoplasia - 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) EEC syndrome ? | EEC syndrome (Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate) is a rare form of ectodermal dysplasia. The symptoms can vary from mild to severe and most commonly include missing or irregular fingers and/or toes (ectrodactyly or split hand/foot malformation); abnormalities of the hair and glands; cleft lip and/or palate; distinctive facial features; and abnormalities of the eyes and urinary tract. EEC syndrome can be divided into two different types defined by the underlying cause. More than 90% of individuals have EEC syndrome type 3 (EEC3), caused by mutations in the TP63 gene. The of individuals with EEC syndrome are thought to have a mutation in a region on chromosome 7, known as EEC syndrome type 1 (EEC1). EEC syndrome is inherited in an autosomal dominant manner. Management typically requires evaluation by various specialists. Treatment varies depending on the signs and symptoms present in the affected individual. | |
What are the symptoms of EEC syndrome ? | What are the signs and symptoms of EEC syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for EEC 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 dental enamel 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Aplasia/Hypoplasia of the eyebrow 90% Coarse hair 90% Dry skin 90% Lacrimation abnormality 90% Reduced number of teeth 90% Taurodontia 90% Thick eyebrow 90% Aplasia/Hypoplasia of the skin 50% Corneal erosion 50% Inflammatory abnormality of the eye 50% Renal hypoplasia/aplasia 50% Slow-growing hair 50% Abnormality of the eyelid 7.5% Abnormality of the middle ear 7.5% Anterior hypopituitarism 7.5% Aplasia/Hypoplasia of the nipples 7.5% Aplasia/Hypoplasia of the thumb 7.5% Aplasia/Hypoplasia of the thymus 7.5% Breast aplasia 7.5% Cognitive impairment 7.5% Displacement of the external urethral meatus 7.5% External ear malformation 7.5% Fine hair 7.5% Finger syndactyly 7.5% Hypohidrosis 7.5% Lymphoma 7.5% Proximal placement of thumb 7.5% Sensorineural hearing impairment 7.5% Short stature 7.5% Intellectual disability 7% Abnormality of the nasopharynx - Absence of Stensen duct - Anal atresia - Autosomal dominant inheritance - Autosomal recessive inheritance - Bicornuate uterus - Bladder diverticulum - Blepharitis - Blepharophimosis - Blue irides - Broad nasal tip - Carious teeth - Central diabetes insipidus - Choanal atresia - Cleft palate - Cleft upper lip - Coarse facial features - Conductive hearing impairment - Cryptorchidism - Dacrocystitis - Death in infancy - Depressed nasal bridge - Depressed nasal tip - Duplicated collecting system - Ectodermal dysplasia - Fair hair - Flexion contracture - Frontal bossing - Generalized hypopigmentation - Growth hormone deficiency - Hand polydactyly - Hearing impairment - Heterogeneous - High axial triradius - Hoarse voice - Hydronephrosis - Hydroureter - Hyperkeratosis - Hypertelorism - Hypogonadotrophic hypogonadism - Hypoplasia of the maxilla - Hypoplastic fingernail - Hypoplastic nipples - Inguinal hernia - Malar flattening - Microcephaly - Microdontia - Micropenis - Microtia - Nail dystrophy - Nail pits - Oligodontia - Ovarian cyst - Photophobia - Prominent forehead - Rectovaginal fistula - Recurrent respiratory infections - Renal agenesis - Renal dysplasia - Selective tooth agenesis - Semilobar holoprosencephaly - Short digit - Single transverse palmar crease - Sparse axillary hair - Sparse eyebrow - Sparse eyelashes - Sparse pubic hair - Sparse scalp hair - Split foot - Split hand - Telecanthus - Thin skin - Toe syndactyly - Transverse vaginal septum - Ureterocele - Ureterovesical stenosis - Vesicoureteral reflux - Xerostomia - 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 EEC syndrome ? | What causes EEC syndrome? Approximately 90% of individuals with EEC syndrome have a causative mutation identified in the TP63 gene. The TP63 gene codes for the p63 protein, which plays a critical role in early development of the ectoderm-the layers of tissue that develop into the skin, hair, teeth, and nails. The p63 protein is additionally thought to play a role in the development of the limbs, facial features, urinary system, and other organs. Individuals that have EEC syndrome due to a mutation in the TP63 gene are classified as having EEC syndrome type 3 (EEC3). In approximately 10% of individuals, EEC syndrome is caused by a mutation on a region of the q (long) arm of chromosome 7. Individuals that have EEC syndrome due to a mutation on the q arm of chromosome 7 are classified as having EEC syndrome type 1 (EEC1). Rarely, EEC syndrome can be found in individuals that do not have mutations in either the TP63 gene or the q arm of chromosome 7. | |
Is EEC syndrome inherited ? | How is EEC syndrome inherited? EEC syndrome is inherited in an autosomal dominant manner.This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation. EEC can appear to be caused by a de novo mutation in some instances when an unaffected parent of an affected child has germline mosaicism. Germline mosaicism affects the genetic make-up of the egg and sperm cell only. It is estimated that unaffected parents of a child with EEC syndrome have a 4% risk of having another affected child. EEC syndrome additionally shows reduced penetrance and variable expressivity. Reduced penetrance means that not all individuals with a mutation in the disease-causing gene will have signs and symptoms of the condition; however, in this condition, it has been reported that up to 93-98% of individuals with a mutation will have the condition. Variable expressivity means that there is a range of signs and symptoms that can occur in different people with the condition (i.e. the expression of the condition varies). | |
How to diagnose EEC syndrome ? | Is genetic testing available for EEC syndrome? It is estimated that greater than 90% of cases of EEC syndrome are caused by mutations in the TP63 gene. The remainder are suspected to be caused by different mutations in a region on chromosome 7. Genetic testing is available to detect both mutations in the TP63 gene and in the implicated region on chromosome 7. Genetic Testing Registry lists the names of laboratories that are performing genetic testing for EEC syndrome. To view the contact information for the clinical laboratories conducting testing click here. Testing for individuals with a family history of EEC syndrome who may have a mutation but do not exhibit signs and symptoms of the condition may be available if the mutation in the affected family member(s) is known. Prenatal diagnosis for pregnancies at risk may also be available if the mutation in the family is known. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. | |
What are the symptoms of Familial erythema nodosum ? | What are the signs and symptoms of Familial erythema nodosum? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial erythema nodosum. 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 - Erythema - Erythema nodosum - 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) Alopecia totalis ? | Alopecia totalis (AT) is a condition characterized by the complete loss of hair on the scalp. It is an advanced form of alopecia areata a condition that causes round patches of hair loss. Although the exact cause of AT is unknown, it is thought to be an autoimmune condition in which the immune system mistakenly attacks the hair follicles. Roughly 20% of affected people have a family member with alopecia, suggesting that genetic factors may contribute to the development of AT. There is currently no cure for AT, but sometimes hair regrowth occurs on it's own, even after many years. | |
What are the symptoms of Alopecia totalis ? | What are the signs and symptoms of Alopecia totalis? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia totalis. 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) Alopecia areata - Alopecia totalis - Autoimmunity - Multifactorial inheritance - Nail pits - 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) Pityriasis lichenoides et varioliformis acuta ? | Pityriasis lichenoides et varioliformis acuta (PLEVA) is the acute form of a skin condition called pityriasis lichenoides. Affected people generally develop a few to more than one hundred scaling papules which may become filled with blood and/or pus or erode into crusted red-brown spots. PLEVA generally resolves on its own within a few weeks to a few months; however, some people experience episodes of the condition on and off for years. Although PLEVA is diagnosed in people of all ages, it most commonly affects children and young adults. The exact underlying cause is unknown, but some scientists suspect that it may occur due to an exaggerated immune response or an overproduction of certain white blood cells (lymphoproliferative disorder). If treatment is necessary, recommended therapies may include oral antibiotic, sun exposure, topical steroids, immunomodulators (medications used to help regulate or normalize the immune system), phototherapy and/or systemic steroids. | |
What are the symptoms of Pityriasis lichenoides et varioliformis acuta ? | What are the signs and symptoms of pityriasis lichenoides et varioliformis acuta? Pityriasis lichenoides et varioliformis acuta (PLEVA) is the acute form of a skin condition called pityriasis lichenoides. It is characterized by the sudden onset of red patches that quickly develop into scaling papules. These papules may become filled with blood and/or pus or erode into crusted red-brown spots. People may also experience burning and itching of the affected area. Scarring and/or temporary discoloration of the skin may be present after the lesions have healed. Although PLEVA can affect almost any part of the body, it most commonly develops on the trunk and/or limbs (arms/legs). Affected people may have a few to more than one hundred papules. The skin abnormalities generally resolve without treatment in a few weeks to a few months; however, some people experience episodes of the condition on and off for years. Aside from the skin findings, most affected people do not experience any additional signs and symptoms. However, some may experience fever, headaches, joint pain and swelling of nearby lymph nodes. Febrile Ulceronecrotic Mucha-Haberman Disease is a rare and severe variant of PLEVA that is associated with unique signs and symptoms. For more information on this condition, please click here. | |
What causes Pityriasis lichenoides et varioliformis acuta ? | What causes pityriasis lichenoides et varioliformis acuta? The exact underlying cause of pityriasis lichenoides et varioliformis acuta (PLEVA) is unknown. Some scientists suspect that it may occur due to an exaggerated immune response or hypersensitivity to an infection. Some of the infections that have been associated with PLEVA include: Toxoplasma gondii Epstein-Barr virus HIV Cytomegalovirus Parvovirus (fifth disease) Staphylococcus aureus Group A beta-haemolytic streptococci Others scientists think the condition may be a benign lymphoproliferative disorder. These conditions are characterized by an overproduction of certain white blood cells (lymphocytes) which can result in tissue and organ damage. | |
How to diagnose Pityriasis lichenoides et varioliformis acuta ? | How is pityriasis lichenoides et varioliformis acuta diagnosed? A diagnosis of pityriasis lichenoides et varioliformis acuta is often suspected based on characteristic signs and symptoms. A skin biopsy can be used to confirm the diagnosis. Additional laboratory testing may be ordered to investigate a possible cause such as an associated infection. | |
What are the treatments for Pityriasis lichenoides et varioliformis acuta ? | How might pityriasis lichenoides et varioliformis acuta be treated? Pityriasis lichenoides et varioliformis acuta (PLEVA) often resolves on its own within several weeks to several months. Depending on the severity of the condition and the symptoms present, treatment may not be necessary. If treatment is indicated, there are many different therapies that have been used to treat PLEVA with varying degrees of success. These include: Oral antibiotics Sun exposure Topical steroids Immunomodulators (medications used to help regulate or normalize the immune system) Phototherapy Systemic steroids Unfortunately, PLEVA may not always respond to treatment and relapses often occur when treatment is discontinued. | |
What are the symptoms of Peptidic growth factors deficiency ? | What are the signs and symptoms of Peptidic growth factors deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Peptidic growth factors 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) Abnormality of skin pigmentation 90% Convex nasal ridge 90% Flexion contracture 90% Lack of skin elasticity 90% Limitation of joint mobility 90% Lipoatrophy 90% Narrow mouth 90% Palmoplantar keratoderma 90% Pectus excavatum 90% Pes planus 90% Weight loss 90% Abnormal hair quantity 50% Abnormality of limb bone morphology 50% Abnormality of lipid metabolism 50% Atherosclerosis 50% Chondrocalcinosis 50% Premature graying of hair 50% Reduced bone mineral density 50% Type I diabetes mellitus 50% Autosomal recessive inheritance - Dermal atrophy - Insulin-resistant diabetes mellitus - Plantar hyperkeratosis - Reduced subcutaneous adipose tissue - Thin skin - 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) Dentinogenesis imperfecta type 2 ? | Dentinogenesis imperfecta type 2 is a rare and severe form of dentinogenesis imperfecta, a condition that affects tooth development. People affected by the condition may have weak and discolored teeth. These problems can affect both primary (baby) teeth and permanent teeth. People with this form of dentinogenesis imperfecta have no normal teeth. Sensorineural hearing loss has also been found in some affected people. Dentinogenesis imperfecta type 2 is caused by changes (mutations) in the DSPP gene and is inherited in an autosomal dominant manner. Treatment is usually focused on protecting primary (baby) and then permanent teeth with preformed pediatric crowns and other interventions. The replacement of teeth might be considered in the future with dentures and/or implants. | |
What are the symptoms of Microphthalmia syndromic 5 ? | What are the signs and symptoms of Microphthalmia syndromic 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 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) Cleft palate 5% Cryptorchidism 5% Ectopic posterior pituitary 5% Micropenis 5% Short stature 5% Autosomal dominant inheritance - Cataract - Coloboma - Joint laxity - Microcornea - Microphthalmia - Muscular hypotonia - Retinal dystrophy - 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 are the symptoms of Methylmalonic acidemia with homocystinuria ? | What are the signs and symptoms of Methylmalonic acidemia with homocystinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Methylmalonic acidemia with homocystinuria. 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 oral cavity 90% Anorexia 90% Cognitive impairment 90% Feeding difficulties in infancy 90% Hydrocephalus 90% Megaloblastic anemia 90% Microcephaly 90% Muscular hypotonia 90% Pallor 90% Reduced consciousness/confusion 90% Retinopathy 90% Seizures 90% Behavioral abnormality 50% Gait disturbance 50% Infantile onset 50% Skin rash 7.5% Abnormality of extrapyramidal motor function - Autosomal recessive inheritance - Cerebral cortical atrophy - Confusion - Cystathioninemia - Cystathioninuria - Decreased adenosylcobalamin - Decreased methionine synthase activity - Decreased methylcobalamin - Decreased methylmalonyl-CoA mutase activity - Dementia - Failure to thrive - Hematuria - Hemolytic-uremic syndrome - High forehead - Homocystinuria - Hyperhomocystinemia - Hypomethioninemia - Intellectual disability - Lethargy - Long face - Low-set ears - Macrotia - Metabolic acidosis - Methylmalonic acidemia - Methylmalonic aciduria - Nephropathy - Neutropenia - Nystagmus - Pigmentary retinopathy - Proteinuria - Reduced visual acuity - Renal insufficiency - Smooth philtrum - Thrombocytopenia - Thromboembolism - Tremor - Visual 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 Osteogenesis imperfecta Levin type ? | What are the signs and symptoms of Osteogenesis imperfecta Levin type? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta Levin 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) Abnormal cortical bone morphology 90% Abnormality of the mandible 90% Bowing of the long bones 90% Advanced eruption of teeth 50% Osteomyelitis 50% Reduced bone mineral density 50% Recurrent fractures 7.5% Scoliosis 7.5% Autosomal dominant inheritance - Diaphyseal cortical sclerosis - Increased susceptibility to fractures - Osteopenia - 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) Hemangiopericytoma ? | Hemangiopericytoma is a term used to described a group of tumors that are derived from pericytes, the cells normally arranged along specific types of blood vessels called capillaries and venules. These types of tumors are typically slow-growing, may be either benign (non-cancerous) or malignant (cancerous), and may occur anywhere in the body. | |
What are the symptoms of Hemangiopericytoma ? | What are the signs and symptoms of Hemangiopericytoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemangiopericytoma. 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 cardiovascular system - 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 causes Hemangiopericytoma ? | What causes hemangiopericytoma? The cause of the disease is unknown, and no strong clinical data exist to indicate a convincing link to specific causes. Some reports suggest a relationship between hemangiopericytoma and occupational vinyl chloride exposure, as well as exposure to herbicides. | |
What are the treatments for Hemangiopericytoma ? | What treatment is available for meningeal hemangiopericytoma? Radical surgical resection with removal of all meningeal attachments is typically the preferred treatment. However this treatment option is generally possible in only 50-67% of patients who have meningeal hemangiopericytoma. Embolization prior to surgery is recommended because of the excessive bleeding associated with these tumors. Embolization is a method of stopping the blood flow to the tumor. This can be done mechanicially or through the use of chemicals that cause blood vessels to close. If chemicals that kill cells are used during embolization the procedure is referred to as chemoembolization. | |
What is (are) Glutamate formiminotransferase deficiency ? | Glutamate formiminotransferase deficiency is an inherited metabolic disorder that affects physical and mental development. There are two forms of this condition, a mild form and a sever form. People with the mild form have minor delays in physical and mental development and may have mild intellectual disability. They also have unusually high levels of a molecule called formiminoglutamate (FIGLU) in their urine. Individuals with the severe form have profound intellectual disability, delayed development of motor skills (sitting, standing, and walking) and megaloblastic anemia. In addition to FIGLU in their urine, they have elevated amounts of certain B vitamins (called folates) in their blood. Glutamate formiminotransferase deficiency is caused by mutations in the FTCD gene. It is inherited in an autosomal recessive pattern. | |
What are the symptoms of Glutamate formiminotransferase deficiency ? | What are the signs and symptoms of Glutamate formiminotransferase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Glutamate formiminotransferase 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 - Autosomal recessive inheritance - Growth delay - Hypersegmentation of neutrophil nuclei - Intellectual disability - Megaloblastic anemia - Positive ferric chloride test - 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) Galactosialidosis ? | Galactosialidosis is an autosomal recessive lysosomal storage disorder caused by mutations in the CTSA gene. It is characterized by coarse facial features, macular cherry-red spots, angiokeratoma (dark red spots on the skin), vertebral deformities, epilepsy, action myoclonus, and ataxia. There are three different types of galactosialidosis: early infantile, late infantile and juvenile/adult. The three forms of galactosialidosis are distinguished by the age at which symptoms develop and the pattern of features. | |
What are the symptoms of Galactosialidosis ? | What are the signs and symptoms of Galactosialidosis? The early infantile form of galactosialidosis is associated with hydrops fetalis, inguinal hernia, and hepatosplenomegaly. Additional features include abnormal bone development (dysostosis multiplex) and distinctive facial features that are often described as 'coarse.' Some infants have an enlarged heart; an eye abnormality called a cherry-red spot (identified through an eye examination); and kidney disease that can progress to kidney failure. Infants with this form are usually diagnosed between birth and 3 months of age. The late infantile form of galactosialidosis shares some features with the early infantile form, although the signs and symptoms are somewhat less severe and begin later in infancy. This form is characterized by short stature, dysostosis multiplex, heart valve problems, hepatosplenomegaly, and 'coarse' facial features. Other symptoms seen in some individuals with this type include intellectual disability, hearing loss, and a cherry-red spot. Children with this condition typically develop symptoms within the first year of life. The juvenile/adult form of galactosialidosis has signs and symptoms that are somewhat different than those of the other two types. This form is distinguished by difficulty coordinating movements (ataxia), muscle twitches (myoclonus), seizures, and progressive intellectual disability. People with this form typically also have dark red spots on the skin (angiokeratomas), abnormalities in the bones of the spine, 'coarse' facial features, a cherry-red spot, vision loss, and hearing loss. The age at which symptoms begin to develop varies widely among affected individuals, but the average age is 16. The Human Phenotype Ontology provides the following list of signs and symptoms for Galactosialidosis. 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 macula 90% Coarse facial features 90% Cognitive impairment 90% Hearing impairment 90% Opacification of the corneal stroma 90% Seizures 90% Short stature 90% Skeletal dysplasia 90% Hepatosplenomegaly 7.5% Autosomal recessive inheritance - Cherry red spot of the macula - Conjunctival telangiectasia - Decreased beta-galactosidase activity - Dysostosis multiplex - Hemangioma - Intellectual disability - Severe short stature - 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 Galactosialidosis ? | What causes galactosialidosis? Galactosialidosis is caused by mutations in the CTSA gene. The CTSA gene provides instructions for making a protein called cathepsin A, which is active in cellular compartments called lysosomes. These compartments contain enzymes that digest and recycle materials when they are no longer needed. Cathepsin A works together with two enzymes, neuraminidase 1 and beta-galactosidase, to form a protein complex. This complex breaks down sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins) or fats (glycolipids). Cathepsin A is also found on the cell surface, where it forms a complex with neuraminidase 1 and a protein called elastin binding protein. Elastin binding protein plays a role in the formation of elastic fibers, a component of the connective tissues that form the body's supportive framework. CTSA mutations interfere with the normal function of cathepsin A. Most mutations disrupt the protein structure of cathepsin A, impairing its ability to form complexes with neuraminidase 1, beta-galactosidase, and elastin binding protein. As a result, these other enzymes are not functional, or they break down prematurely. Galactosialidosis belongs to a large family of lysosomal storage disorders, each caused by the deficiency of a specific lysosomal enzyme or protein. In galactosialidosis, impaired functioning of cathepsin A and other enzymes causes certain substances to accumulate in the lysosomes. | |
Is Galactosialidosis inherited ? | How is galactosialidosis inherited? Galactosialidosis is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | |
What are the treatments for Galactosialidosis ? | How might galactosialidosis be treated? There is no cure for galactosialidosis. Treatment is symptomatic and supportive; for example, taking medication to control seizures. Individuals with galactosialidosis are encouraged to routinely see their genetic counselors, neurological, ophthalmological, and other specialists as symptoms arise and to keep symptoms controlled. Bone marrow transplant is under investigation as an experimental therapy. No conclusive results are currently available regarding the long term benefits of this treatment. | |
What are the symptoms of Hyperlipoproteinemia type 4 ? | What are the signs and symptoms of Hyperlipoproteinemia type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperlipoproteinemia type 4. 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 glucose tolerance - Atheroeruptive xanthoma - Autosomal dominant inheritance - Heterogeneous - Hypertriglyceridemia - Increased circulating very-low-density lipoprotein cholesterol - Precocious atherosclerosis - 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 Spondylometaphyseal dysplasia type A4 ? | What are the signs and symptoms of Spondylometaphyseal dysplasia type A4? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia type A4. 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% Micromelia 90% Platyspondyly 90% Short stature 90% Brachydactyly syndrome 50% Enlarged thorax 7.5% Limitation of joint mobility 7.5% Autosomal recessive inheritance - Broad ischia - Costochondral joint sclerosis - Coxa valga - Disproportionate short-limb short stature - Dolichocephaly - Enlargement of the costochondral junction - Flat acetabular roof - Hypoplasia of the capital femoral epiphysis - Irregular capital femoral epiphysis - Irregular patellae - Metaphyseal irregularity - Metaphyseal sclerosis - Metaphyseal widening - Narrow greater sacrosciatic notches - Osteoporotic metatarsal - Osteoporotic tarsals - Ovoid vertebral bodies - Pectus carinatum - Sclerotic humeral metaphysis - Severe short stature - Spondylometaphyseal dysplasia - 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 Pancreatic cancer, childhood ? | What are the signs and symptoms of Pancreatic cancer, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Pancreatic cancer, childhood. 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) Neoplasm of the pancreas - 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) Microcephalic osteodysplastic primordial dwarfism type 2 ? | Microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2) is a condition characterized by short stature (dwarfism), skeletal abnormalities and an unusually small head size (microcephaly). Other signs and symptoms of MOPD2 may include hip dysplasia; thinning of the bones in the arms and legs; scoliosis; shortened wrist bones; a high-pitched voice; distinctive facial features (prominent nose, full cheeks, a long midface, and a small jaw); small teeth; abnormal skin pigmentation; and blood vessel abnormalities. Intellectual development is typically normal. It is caused by mutations in the PCNT gene and is inherited in an autosomal recessive manner. | |
What are the symptoms of Microcephalic osteodysplastic primordial dwarfism type 2 ? | What are the signs and symptoms of Microcephalic osteodysplastic primordial dwarfism type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephalic osteodysplastic primordial dwarfism 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 hip bone 90% Abnormality of the metaphyses 90% Abnormality of the voice 90% Aplasia/Hypoplasia of the earlobes 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Delayed skeletal maturation 90% Fine hair 90% Intrauterine growth retardation 90% Microcephaly 90% Micromelia 90% Reduced number of teeth 90% Abnormality of female external genitalia 50% Aplasia/Hypoplasia of the eyebrow 50% Cafe-au-lait spot 50% Dry skin 50% Full cheeks 50% Hypopigmented skin patches 50% Joint hypermobility 50% Low-set, posteriorly rotated ears 50% Microdontia 50% Scoliosis 50% Sensorineural hearing impairment 50% Truncal obesity 50% Underdeveloped nasal alae 50% Wide nasal bridge 50% Anemia 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Atria septal defect 7.5% Attention deficit hyperactivity disorder 7.5% Blepharophimosis 7.5% Cerebral ischemia 7.5% Cognitive impairment 7.5% Cone-shaped epiphysis 7.5% Ivory epiphyses 7.5% Laryngomalacia 7.5% Long clavicles 7.5% Patent ductus arteriosus 7.5% Precocious puberty 7.5% Recurrent respiratory infections 7.5% Seizures 7.5% Straight clavicles 7.5% Thin clavicles 7.5% Tracheal stenosis 7.5% Ventriculomegaly 7.5% Distal symphalangism 5% Hypoplastic scapulae 5% Large sella turcica 5% Limited elbow extension 5% Narrow chest 5% Short middle phalanx of finger 5% Autosomal recessive inheritance - Cerebral aneurysm - Coxa vara - Disproportionate short stature - Flared metaphysis - High pitched voice - Hypermetropia - Hypoplasia of dental enamel - Hypoplastic iliac wing - Hypospadias - Intellectual disability - Microtia - Moyamoya phenomenon - Narrow pelvis bone - Postnatal growth retardation - Prominent nasal bridge - Prominent nose - Proximal femoral epiphysiolysis - Pseudoepiphyses of the metacarpals - Radial bowing - Retrognathia - Short 1st metacarpal - Short distal phalanx of finger - Slender long bone - Sloping forehead - Sparse scalp hair - Tibial bowing - Type II diabetes mellitus - Ulnar bowing - Upslanted palpebral fissure - 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) Nance-Horan syndrome ? | Nance-Horan syndrome is a rare genetic disorder that may be evident at birth. It is characterized by teeth abnormalities and cataracts, resulting in poor vision. Additional eye abnormalities are also often present, including a very small cornea and nystagmus. In some cases, the condition may also be associated with physical abnormalities and/or intellectual disability. The range and severity of symptoms may vary greatly from one person to another, even among affected members of the same family. Nance-Horan syndrome is caused by a mutation in the NHS gene and is inherited as an X-linked dominant trait, which means that both males and females can be affected, but males often have more severe symptoms.The treatment is directed toward the specific symptoms that are apparent in the individual. | |
What are the symptoms of Nance-Horan syndrome ? | What are the signs and symptoms of Nance-Horan syndrome? The main features of Nance-Horan syndrome include congenital cataracts, dental abnormalities, distinctive facial features, and in some cases, intellectual disability. In affected males, the primary physical characteristic is the presence of dense clouding of the lens (cornea) of both eyes at birth (congenital bilateral cataracts). The cataracts usually result in blurred vision and severely decreased clearness or clarity of vision (visual acuity). Vision loss can potentially be profound. Males with Nance-Horan syndrome may have additional eye abnormalities, including a very small cornea (microcornea); involuntary movements of the eyes (nystagmus), and/or misalignment of the eyes (strabismus). In some cases, the entire eye may be abnormally small (microphthalmia) and/or the upper eyelid may droop (ptosis). Males with Nance-Horan syndrome may also have several dental abnormalities such as unusually shaped, extra (supernumerary) teeth, absence of some teeth (dental agenesis), impacted teeth or unusually wide spaces (diastema) between some of the teeth. The front teeth, or incisors, are usually tapered and 'screwdriver-shaped'. The teeth in the back of the mouth may be cone-shaped, rounded, or cylindrical. In many males with Nance-Horan syndrome, other physical findings may also occur. Distinctive facial features may be present, but may be subtle. The ears may be flared forward and unusually prominent. Affected males may also have a large, prominent nose with a high, narrow nasal bridge, a narrow prominent jaw, and sometimes a long, narrow face. Some males with Nance-Horan syndrome may also experience delays the skills necessary for coordinating muscular and mental activity. In addition, some reports suggest that approximately 20 to 30 percent of affected males may have varying levels of intellectual disability, which is usually mild to moderate; but in some cases can be severe. Females who carry a single copy of the mutation in the NHS gene may develop some symptoms of the disorder. However, symptoms are usually milder and more variable than those seen in males. Affected females may have abnormally small corneas (microcornea) and/or some clouding of the cornea. Vision may be normal, or there may be slightly decreased visual acuity. Without appropriate treatment, clouding of the cornea can lead to total cataracts later in life. Females often have some dental abnormalities, such as abnormally-shaped front teeth and/or unusually wide spaces between some of the teeth. Affected females usually do not develop intellectual disability. The Human Phenotype Ontology provides the following list of signs and symptoms for Nance-Horan 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) Abnormal nasal morphology 90% Cataract 90% Long face 90% Mandibular prognathia 90% Microcornea 90% Nystagmus 90% Prominent nasal bridge 90% Visual impairment 90% Intellectual disability, moderate 80% Abnormality of the metacarpal bones 50% Cognitive impairment 50% Increased number of teeth 50% Strabismus 50% Aplasia/Hypoplasia affecting the eye 7.5% Behavioral abnormality 7.5% Glaucoma 7.5% Retinal detachment 7.5% Autism - Broad finger - Congenital cataract - Diastema - Macrotia - Microphthalmia - Narrow face - Posterior Y-sutural cataract - Prominent nose - Screwdriver-shaped incisors - Short phalanx of finger - Supernumerary maxillary incisor - Visual loss - 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 Nance-Horan syndrome ? | What causes Nance-Horan syndrome? Nance-Horan syndrome is caused by a mutation in the NHS gene, which is located on the X chromosome. Some patients have losses (deletions) of part of the chromosome X short arm (p) within the region involving the NHS gene and other genes that are located in this region. These patients may have more problems and the problems may be more serious. | |
Is Nance-Horan syndrome inherited ? | How is Nance-Horan syndrome inherited? Nance-Horan syndrome is inherited as an X-linked dominant trait. In X-linked dominant inheritance, both males and females can be affected by a condition. However, affected males tend to have more severe features than females. X-linked conditions result from mutations of a gene located on an X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. In females, disease traits resulting from the abnormal copy of a gene on one X chromosome can be 'masked' by the normal copy of the gene on the other X chromosome. Because only one functioning X chromosome is required in males and females, one of the X chromosomes in each cell of a female is essentially 'turned off,' usually in a random pattern (X chromosome inactivation). Therefore, if the X chromosome with the gene mutation is activated in some cells, female carriers may have some mild features of the disorder. However, since males only have one X chromosome, they will likely fully express a condition if they inherit a gene mutation that is located on the X chromosome. | |
What are the symptoms of Tuberous sclerosis, type 1 ? | What are the signs and symptoms of Tuberous sclerosis, type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Tuberous sclerosis, 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) Intellectual disability 30% Abnormality of the respiratory system - Achromatic retinal patches - Astrocytoma - Attention deficit hyperactivity disorder - Autism - Autosomal dominant inheritance - Cafe-au-lait spot - Cerebral calcification - Chordoma - Dental enamel pits - Ependymoma - Gingival fibromatosis - Hypomelanotic macule - Hypothyroidism - Infantile spasms - Optic glioma - Phenotypic variability - Precocious puberty - Premature chromatid separation - Projection of scalp hair onto lateral cheek - Renal angiomyolipoma - Renal cell carcinoma - Renal cyst - Shagreen patch - Specific learning disability - Subcutaneous nodule - Subependymal nodules - Subungual fibromas - Wolff-Parkinson-White syndrome - 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 Acrorenal mandibular syndrome ? | What are the signs and symptoms of Acrorenal mandibular syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrorenal mandibular 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 fibula 90% Abnormality of the tibia 90% Aplasia/Hypoplasia of the radius 90% Renal hypoplasia/aplasia 90% Split foot 90% Split hand 90% Abnormality of female internal genitalia 50% Abnormality of the clavicle 50% Abnormality of the hip bone 50% Abnormality of the palate 50% Abnormality of the ribs 50% Abnormality of the sense of smell 50% Aplasia/Hypoplasia of the lungs 50% Intrauterine growth retardation 50% Low-set, posteriorly rotated ears 50% Oligohydramnios 50% Pectus carinatum 50% Short neck 50% Abnormal form of the vertebral bodies 7.5% Abnormal lung lobation 7.5% Aplasia/Hypoplasia of the tongue 7.5% Congenital diaphragmatic hernia 7.5% Finger syndactyly 7.5% Kyphosis 7.5% Narrow face 7.5% Oral cleft 7.5% Scoliosis 7.5% Short philtrum 7.5% Sprengel anomaly 7.5% Tracheoesophageal fistula 7.5% Abnormal sacral segmentation - Abnormality of the cardiovascular system - Abnormality of the ureter - Absent nipple - Autosomal recessive inheritance - Bicornuate uterus - Butterfly vertebrae - Dolichocephaly - Elbow flexion contracture - Epicanthus - Foot polydactyly - Hand polydactyly - Hemivertebrae - High palate - Hip dislocation - Hypoplasia of the radius - Hypoplasia of the ulna - Hypoplastic scapulae - Kyphoscoliosis - Low-set ears - Missing ribs - Narrow chest - Narrow palate - Polycystic kidney dysplasia - Posteriorly rotated ears - Pulmonary hypoplasia - Renal agenesis - Rudimentary fibula - Rudimentary to absent tibiae - Thin ribs - Toe syndactyly - Uterus didelphys - 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) Noonan syndrome 4 ? | Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the responsible gene in an affected person. Noonan syndrome is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent. | |
What are the symptoms of Noonan syndrome 4 ? | What are the signs and symptoms of Noonan syndrome 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 4. 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) Prolonged bleeding time 5% Autosomal dominant inheritance - Blue irides - Cryptorchidism - Cubitus valgus - Curly hair - Dental malocclusion - Depressed nasal bridge - Epicanthus - High anterior hairline - Hypertelorism - Hypertrophic cardiomyopathy - Low-set, posteriorly rotated ears - Macrocephaly - Pectus excavatum of inferior sternum - Ptosis - Pulmonic stenosis - Scoliosis - Short neck - Short stature - Sparse eyebrow - Thick lower lip vermilion - Ventricular septal defect - Webbed neck - Wide intermamillary distance - 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 Noonan syndrome 4 ? | How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabilities are addressed by early intervention programs and individualized education strategies. Treatment for serious bleeding depends upon the specific factor deficiency or platelet abnormality. Growth hormone treatment increases growth velocity. More detailed information about treatment for Noonan syndrome can be viewed on the GeneReviews Web site. | |
What are the symptoms of Partial agenesis of corpus callosum ? | What are the signs and symptoms of Partial agenesis of corpus callosum? The Human Phenotype Ontology provides the following list of signs and symptoms for Partial agenesis of corpus callosum. 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% Hypertonia 50% Microcephaly 50% Muscle weakness 50% Aganglionic megacolon 7.5% Abnormal facial shape - Cerebellar hypoplasia - Hydrocephalus - Inferior vermis hypoplasia - Intellectual disability - Partial agenesis of the corpus callosum - Spasticity - 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 is (are) Geroderma osteodysplastica ? | Geroderma osteodysplastica is an autosomal recessive disorder characterized by lax, wrinkled skin, loose joints and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia (underdeveloped cheekbones and jaw) and a variable degree of growth deficiency. This condition is caused by mutations in the GORAB gene. | |
What are the symptoms of Geroderma osteodysplastica ? | What are the signs and symptoms of Geroderma osteodysplastica? The Human Phenotype Ontology provides the following list of signs and symptoms for Geroderma osteodysplastica. 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) Cutis laxa 90% Hyperextensible skin 90% Joint hypermobility 90% Recurrent fractures 90% Reduced bone mineral density 90% Short stature 90% Thin skin 90% Abnormality of the hip bone 50% Muscular hypotonia 50% Scoliosis 50% Abnormality of epiphysis morphology 7.5% Cognitive impairment 7.5% Hernia 7.5% Hypoplasia of the zygomatic bone 7.5% Mandibular prognathia 7.5% Microcornea 7.5% Pectus carinatum 7.5% Pes planus 7.5% Platyspondyly 7.5% Prematurely aged appearance 7.5% Talipes 7.5% Autosomal recessive inheritance - Beaking of vertebral bodies - Biconcave vertebral bodies - Camptodactyly - Deeply set eye - Delayed speech and language development - Femoral bowing - Hyperextensibility of the finger joints - Hypoplasia of the maxilla - Intellectual disability - Malar flattening - Microcephaly - Osteopenia - Osteoporosis - Periodontitis - Severe short stature - Tibial bowing - Vertebral compression fractures - Wormian bones - 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) Multiple epiphyseal dysplasia ? | Multiple epiphyseal dysplasia (MED) is a group of disorders of cartilage and bone development, primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of MED, which are distinguished by their patterns of inheritance - autosomal dominant and autosomal recessive. Signs and symptoms may include joint pain in the hips and knees; early-onset arthritis; a waddling walk; and mild short stature as adults. Recessive MED may also cause malformations of the hands, feet, and knees; scoliosis; or other abnormalities. Most people are diagnosed during childhood, but mild cases may not be diagnosed until adulthood. Dominant MED is caused by mutations in the COMP, COL9A1, COL9A2, COL9A3, or MATN3 genes (or can be of unknown cause), and recessive MED is caused by mutations in the SLC26A2 gene. | |
What are the symptoms of Multiple epiphyseal dysplasia ? | What are the signs and symptoms of Multiple epiphyseal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal 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) Abnormal cortical bone morphology 90% Abnormality of epiphysis morphology 90% Abnormality of the metaphyses 90% Abnormality of the ulna 90% Abnormality of the wrist 90% Anteverted nares 90% Aplasia/Hypoplasia of the sacrum 90% Brachydactyly syndrome 90% Delayed skeletal maturation 90% Limitation of joint mobility 90% Myopia 90% Osteoarthritis 90% Rough bone trabeculation 90% Round face 90% Sensorineural hearing impairment 90% Short palm 90% Tarsal synostosis 90% Abnormal form of the vertebral bodies 50% Abnormality of the femur 50% Abnormality of the hip bone 50% Arthralgia 50% Cleft palate 50% Clinodactyly of the 5th finger 50% Gait disturbance 50% Malar flattening 50% Micromelia 50% Patellar aplasia 50% Scoliosis 50% Short stature 50% Talipes 50% Anonychia 7.5% Genu valgum 7.5% Genu varum 7.5% Hearing abnormality 7.5% Abnormality of the hip joint - Arthralgia of the hip - Autosomal dominant inheritance - Autosomal recessive inheritance - Avascular necrosis of the capital femoral epiphysis - Broad femoral neck - Coxa vara - Delayed epiphyseal ossification - Delayed ossification of carpal bones - Delayed tarsal ossification - Disproportionate short-limb short stature - Elevated serum creatine phosphokinase - Epiphyseal dysplasia - Flat capital femoral epiphysis - Flattened epiphysis - Generalized joint laxity - Hip dysplasia - Hip osteoarthritis - Hypoplasia of the capital femoral epiphysis - Hypoplasia of the femoral head - Irregular epiphyses - Irregular vertebral endplates - Joint stiffness - Knee osteoarthritis - Limited elbow flexion - Limited hip movement - Metaphyseal irregularity - Mild short stature - Multiple epiphyseal dysplasia - Ovoid vertebral bodies - Premature osteoarthritis - Proximal muscle weakness - Short femoral neck - Short metacarpal - Short phalanx of finger - Small epiphyses - Talipes equinovarus - Waddling gait - 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 Multiple epiphyseal dysplasia inherited ? | How is multiple epiphyseal dysplasia inherited? Multiple epiphyseal dysplasia (MED) may be inherited in an autosomal dominant or autosomal recessive manner depending on the genetic cause. Most cases are autosomal dominant. In autosomal dominant inheritance, having a mutation in only one of the 2 copies of the responsible gene is enough to cause the condition. The mutation may be inherited from a parent or can occur for the first time in the affected person. Each child of a person with an autosomal dominant condition has a 50% (1 in 2) chance to inherit the mutation. More rarely, MED is inherited in an autosomal recessive manner. In autosomal recessive inheritance, a person must have a mutation in both copies of the responsible gene to be affected. The parents of a person with an autosomal recessive condition usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not have signs or symptoms and are unaffected. When two carriers for the same condition have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each parent, and a 25% to be both unaffected and not a carrier. | |
What is (are) Osteogenesis imperfecta type III ? | Osteogenesis imperfecta type III (OI type III) is a form of osteogenesis imperfecta, a group of genetic conditions that primarily affect the bones. In OI type III, specifically, a diagnosis can often be made shortly after birth as fractures (broken bones) during the newborn period simply from handling the infant are common. Other signs and symptoms vary significantly from person to person but may include severe bone fragility, bone malformations, short stature, dental problems (dentinogenesis imperfect), macrocephaly (unusually large head), hearing loss, and blue sclerae (whites of the eyes). Most affected people are unable to walk without assistance. OI type III is caused by changes (mutations) in the COL1A1 or COL1A2 genes and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. | |
What are the symptoms of Osteogenesis imperfecta type III ? | What are the signs and symptoms of Osteogenesis imperfecta type III? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type III. 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 nervous system - Abnormality of the thorax - Autosomal dominant inheritance - Autosomal recessive inheritance - Basilar impression - Biconcave vertebral bodies - Blue sclerae - Bowing of limbs due to multiple fractures - Decreased calvarial ossification - Dentinogenesis imperfecta - Frontal bossing - Hearing impairment - Kyphosis - Multiple prenatal fractures - Neonatal short-limb short stature - Platybasia - Protrusio acetabuli - Pulmonary hypertension - Recurrent fractures - Scoliosis - Severe generalized osteoporosis - Slender long bone - Tibial bowing - Triangular face - Wide anterior fontanel - Wormian bones - 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 Dyskeratosis congenita autosomal dominant ? | What are the signs and symptoms of Dyskeratosis congenita autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Dyskeratosis congenita autosomal dominant. 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 neutrophils 90% Abnormality of the fingernails 90% Anemia 90% Hypermelanotic macule 90% Thrombocytopenia 90% Abnormality of coagulation 50% Abnormality of female internal genitalia 50% Abnormality of the pharynx 50% Abnormality of the testis 50% Anonychia 50% Aplasia/Hypoplasia of the skin 50% Aplastic/hypoplastic toenail 50% Bone marrow hypocellularity 50% Carious teeth 50% Cellular immunodeficiency 50% Cognitive impairment 50% Hyperhidrosis 50% Hypopigmented skin patches 50% Intrauterine growth retardation 50% Malabsorption 50% Palmoplantar keratoderma 50% Recurrent fractures 50% Recurrent respiratory infections 50% Rough bone trabeculation 50% Short stature 50% Skin ulcer 50% Telangiectasia of the skin 50% Tracheoesophageal fistula 50% Abnormal blistering of the skin 7.5% Abnormality of the eyebrow 7.5% Alopecia 7.5% Aseptic necrosis 7.5% Cataract 7.5% Cerebral calcification 7.5% Cirrhosis 7.5% Diabetes mellitus 7.5% Displacement of the external urethral meatus 7.5% Hearing impairment 7.5% Hepatic failure 7.5% Hepatomegaly 7.5% Hypopigmentation of hair 7.5% Inflammatory abnormality of the eye 7.5% Lymphoma 7.5% Neoplasm of the pancreas 7.5% Premature graying of hair 7.5% Reduced bone mineral density 7.5% Scoliosis 7.5% Splenomegaly 7.5% Aplastic anemia - Ataxia - Autosomal dominant inheritance - Cerebellar hypoplasia - Dermal atrophy - Interstitial pneumonitis - Lymphopenia - Myelodysplasia - Nail dystrophy - Nail pits - Oral leukoplakia - Osteoporosis - Phenotypic variability - Premature loss of teeth - Pulmonary fibrosis - Reticular hyperpigmentation - Ridged nail - Sparse hair - Specific learning disability - Squamous cell carcinoma of the skin - 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. |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.