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What are the symptoms of Gupta Patton syndrome ? | What are the signs and symptoms of Gupta Patton syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gupta Patton 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) Anotia - Aplasia/Hypoplasia of the middle ear - Autosomal recessive inheritance - Conductive hearing impairment - Facial asymmetry - Microtia - Wide mouth - 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 Brooks Wisniewski Brown syndrome ? | What are the signs and symptoms of Brooks Wisniewski Brown syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Brooks Wisniewski Brown 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) Developmental regression 5% Agenesis of corpus callosum - Blepharophimosis - Bulbous nose - Cerebral atrophy - Cupped ear - Decreased muscle mass - Deeply set eye - Delayed speech and language development - Depressed nasal bridge - EEG abnormality - Epicanthus inversus - Esotropia - Flexion contracture - Hyperactivity - Hyperreflexia - Increased serum lactate - Intellectual disability, progressive - Intellectual disability, severe - Low posterior hairline - Low-set ears - Microcephaly - Myopia - Narrow mouth - Nystagmus - Optic atrophy - Pectus excavatum - Poor coordination - Posteriorly rotated ears - Protruding ear - Seizures - Severe postnatal growth retardation - Short palpebral fissure - Short stature - Small for gestational age - Spastic diplegia - Tapered finger - Triangular face - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Frontotemporal dementia, ubiquitin-positive ? | What are the signs and symptoms of Frontotemporal dementia, ubiquitin-positive? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontotemporal dementia, ubiquitin-positive. 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) Agitation - Apathy - Aphasia - Apraxia - Autosomal dominant inheritance - Cerebral cortical atrophy - Dilation of lateral ventricles - Disinhibition - Dysphasia - Frontotemporal dementia - Gliosis - Hallucinations - Hyperorality - Hypersexuality - Memory impairment - Mutism - Neuronal loss in central nervous system - Parkinsonism - Perseveration - Personality changes - Polyphagia - Progressive language deterioration - Repetitive compulsive behavior - 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) Buerger disease ? | Buerger disease is a disease of the arteries and veins in the arms and legs. The arteries and veins become inflamed which can lead to narrowed and blocked vessels. This reduces blood flow resulting in pain and eventually damage to affected tissues. Buerger disease nearly always occurs in association with cigarette or other tobacco use. Quitting all forms of tobacco is an essential part of treatment. | |
What are the symptoms of Buerger disease ? | What are the signs and symptoms of Buerger disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Buerger 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) Arterial thrombosis 90% Gangrene 90% Skin ulcer 90% Vasculitis 90% Acrocyanosis 50% Arthralgia 50% Paresthesia 50% Hyperhidrosis 7.5% Insomnia 7.5% Autosomal recessive inheritance - Limb pain - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What causes Buerger disease ? | What causes Buerger disease? Buerger disease has a strong relationship to cigarette smoking. This association may be due to direct poisioning of cells from some component of tobacco, or by hypersensitivity to the same components. Many people with Buerger disease will show hypersensitivities to injection of tobacco extracts into their skin. There may be a genetic component to susceptibility to Buerger disease as well. It is possible that these genetic influences account for the higher prevalence of Buerger disease in people of Israeli, Indian subcontinent, and Japanese descent. Certain HLA (human leukocyte antigen) haplotypes have also been found in association with Buerger disease. | |
What are the treatments for Buerger disease ? | How is Buerger disease treated? Currently there is not a cure for Buerger disease, however there are treatments that can help control it. The most essential part of treatment is to avoid all tobacco and nicotine products. Even one cigarette a day can worsen the disease. A doctor can help a person with Buerger disease learn about safe medications and programs to combat smoking/nicotine addiction. Continued smoking is associated with an overall amputation rate of 40 to 50 percent. The following treatments may also be helpful, but do not replace smoking/nicotine cessation: Medications to dilate blood vessels and improve blood flow (e.g., intravenous Iloprost) Medications to dissolve blood clots Treatment with calcium channel blockers Walking exercises Intermittent compression of the arms and legs to increase blood flow to your extremities Surgical sympathectomy (a controversial surgery to cut the nerves to the affected area to control pain and increase blood flow) Therapeutic angiogenesis (medications to stimulate growth of new blood vessels) Spinal cord stimulation Amputation, if infection or gangrene occurs | |
What is (are) Triple A syndrome ? | Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima (a reduced or absent ability to secrete tears). Most people with triple A syndrome have all three of these features, although some have only two. Several authors published descriptions of a more global autonomic disturbance associated with the original three characteristics, leading one author to suggest the name 4A syndrome (adrenal insufficiency, achalasia, alacrima, autonomic abnormalities). Specific autonomic disturbances described in this syndrome include abnormal pupillary reflexes, poor heart rate variability, and orthostatic hypotension. Affected individuals may also have developmental delay, intellectual disability, speech problems, a small head size, muscle weakness, movement problems, peripheral neuropathy, and optic atrophy. Many of the neurological symptoms of triple A syndrome worsen over time. Triple A syndrome is caused by mutations in the AAAS gene and is inherited in an autosomal recessive pattern. Alacrimia is treated with artificial tears while achalasia may need surgery with either pneumatic dilatation or Heller's myotomy. Adrenal insufficiency is treated with glucocorticoid and if necessary mineralocorticoid replacement. | |
What are the symptoms of Triple A syndrome ? | What are the signs and symptoms of Triple A syndrome? Triple A syndrome is characterized by three specific features: achalasia, Addison disease, and alacrima (reduced or absent ability to secrete tears). Achalasia is a disorder that affects the ability to move food through the esophagus, the tube that carries food from the throat to the stomach. It can lead to severe feeding difficulties and low blood sugar (hypoglycemia). Addison disease, also known as primary adrenal insufficiency, is caused by abnormal function of the small hormone-producing glands on top of each kidney (adrenal glands). The main features of Addison disease include fatigue, loss of appetite, weight loss, low blood pressure, and darkening of the skin. The third major feature of triple A syndrome is alacrima. Most people with triple A syndrome have all three of these features, although some have only two. Many of the features of triple A syndrome are caused by dysfunction of the autonomic nervous system. This part of the nervous system controls involuntary body processes such as digestion, blood pressure, and body temperature. People with triple A syndrome often experience abnormal sweating, difficulty regulating blood pressure, unequal pupil size (anisocoria), and other signs and symptoms of autonomic nervous system dysfunction (dysautonomia). People with this condition may have other neurological abnormalities such as developmental delay, intellectual disability, speech problems (dysarthria), and a small head size (microcephaly). In addition, affected individuals commonly experience muscle weakness, movement problems, and nerve abnormalities in their extremities (peripheral neuropathy). Some develop optic atrophy, which is the degeneration (atrophy) of the nerves that carry information from the eyes to the brain. Many of the neurological symptoms of triple A syndrome worsen over time. Adults may exhibit progressive neural degenearation, parkinsonism features and cognitive impairment. People with triple A syndrome frequently develop a thickening of the outer layer of skin (hyperkeratosis) on the palms of their hands and the soles of their feet. Other skin abnormalities may also be present in people with this condition. Alacrima is usually the first noticeable sign of triple A syndrome, as it becomes apparent early in life that affected children produce little or no tears while crying. Individuals typically develop Addison disease and achalasia during childhood or adolescence, and most of the neurologic features of triple A syndrome begin during adulthood. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. The Human Phenotype Ontology provides the following list of signs and symptoms for Triple A 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) Generalized hyperpigmentation 90% Primary adrenal insufficiency 90% Seizures 90% Palmoplantar keratoderma 50% Short stature 50% Visual impairment 50% Anterior hypopituitarism 7.5% Developmental regression 7.5% Hyperreflexia 7.5% Incoordination 7.5% Iris coloboma 7.5% Microcephaly 7.5% Muscular hypotonia 7.5% Optic atrophy 7.5% Respiratory insufficiency 7.5% Sensorineural hearing impairment 7.5% Abnormality of visual evoked potentials - Achalasia - Adrenocorticotropin (ACTH) receptor (ACTHR) defect - Anisocoria - Ataxia - Autosomal recessive inheritance - Babinski sign - Childhood onset - Dysarthria - Dysautonomia - Hyperpigmentation of the skin - Hypocortisolemia - Intellectual disability - Motor axonal neuropathy - Muscle weakness - Orthostatic hypotension - Palmoplantar hyperkeratosis - Progressive - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What causes Triple A syndrome ? | What causes triple A syndrome? Mutations in the AAAS gene cause triple A syndrome in many affected individuals. This gene provides instructions for making a protein called ALADIN, whose function is not well understood. Within cells, ALADIN is found in the nuclear envelope, the structure that surrounds the nucleus and separates it from the rest of the cell. Based on its location, ALADIN is thought to be involved in the movement of molecules into and out of the nucleus of the cell. Mutations in the AAAS gene prevent this protein from reaching its proper location in the cell, which may disrupt the movement of molecules. Researchers suspect that DNA repair proteins may be unable to enter the nucleus if ALADIN is missing from the nuclear envelope. DNA damage that is not repaired can cause the cell to become unstable and lead to cell death. Although the nervous system is particularly vulnerable to DNA damage, it remains unknown exactly how mutations in the AAAS gene lead to the signs and symptoms of triple A syndrome. Some individuals with triple A syndrome do not have an identified mutation in the AAAS gene; in these individuals, the genetic cause of the disorder is unknown. | |
Is Triple A syndrome inherited ? | How is triple A syndrome inherited? Triple A syndrome 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 and are referred to as "carriers" but they typically do not show signs and symptoms of the condition. When 2 carriers for the same autosomal recessive condition have a child, there is a 25% (1 in 4) chance that the child will have the condition, a 50% (1 in 2) chance that the child will be a carrier like each of the parents, and a 25% chance that the child will not have the condition and not be a carrier for the condition. | |
What are the treatments for Triple A syndrome ? | How might triple A syndrome be treated? There is no cure for triple A syndrome at this time; treatment typically focuses on managing individual signs and symptoms of the condition. Glucocorticoid deficiency in individuals with known adrenal insufficiency (present with Addison disease) is typically treated by replacement of glucocorticoids. This may be important for avoiding an adrenal crisis and allowing for normal growth in children. In adult individuals, as well as those who have difficulty with compliance, replacing hydrocortisone with prednisone or dexamethasone is sometimes recommended. It is usually recommended that affected individuals wear a medical alert bracelet or necklace and carry the emergency medical information card supplied with it. Achalasia is typically managed with surgical correction. Individuals may be monitored for pulmonary complications (due to reflux and aspiration). Gastric acid reduction therapy in individuals with reflux after surgical intervention is usually recommended. The symptoms in individuals with achalasia may be improved partially with pneumatic dilatation (also called balloon dilation). For those who remain symptomatic after this, other surgeries may be recommended. Alacrima is typically managed by applying topical lubricants (such as artificial tears or ointments), and with punctal occlusion (a procedure used to close the tear ducts that drain tears from the eye). The symptoms of alacrima typically improve with punctal occlusion. However, this procedure is usually only done when therapy with topical lubricants is unsuccessful. | |
What is (are) Cockayne syndrome ? | Cockayne syndrome is a rare condition which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive in the newborn, microcephaly, and impaired nervous system development. Other symptoms may include hearing loss, tooth decay, and eye and bone abnormalities. Cockayne syndrome type 1 (type A) is sometimes called classic or "moderate" Cockayne syndrome and is diagnosed during early childhood. Cockayne syndrome type 2 (type B) is sometimes referred to as the severe or "early-onset" type. This more severe form presents with growth and developmental abnormalities at birth. The third type, Cockayne syndrome type 3 (type C) is a milder form of the disorder. Cockayne syndrome is caused by mutations in either the ERCC8 (CSA) or ERCC6 (CSB) genes and is inherited in an autosomal recessive pattern. The typical lifespan for individuals with Cockayne syndrome type 1 is ten to twenty years. Individuals with type 2 usually do not survive past childhood. Those with type 3 live into middle adulthood. | |
What are the symptoms of Cockayne syndrome ? | What are the signs and symptoms of Cockayne syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cockayne 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 blistering of the skin 90% Abnormality of the nose 90% Carious teeth 90% Cognitive impairment 90% Cutaneous photosensitivity 90% Deeply set eye 90% Hyperreflexia 90% Hypertonia 90% Incoordination 90% Macrotia 90% Microcephaly 90% Peripheral neuropathy 90% Prematurely aged appearance 90% Retinopathy 90% Sensorineural hearing impairment 90% Short stature 90% Abnormal hair quantity 50% Abnormality of the foot 50% Aplasia/Hypoplasia of the skin 50% Atypical scarring of skin 50% Cerebral calcification 50% Cerebral cortical atrophy 50% Chorioretinal abnormality 50% Decreased nerve conduction velocity 50% Dental malocclusion 50% Disproportionate tall stature 50% EEG abnormality 50% Fine hair 50% Generalized hyperpigmentation 50% Hypertension 50% Kyphosis 50% Large hands 50% Limitation of joint mobility 50% Strabismus 50% Tremor 50% Abnormality of pelvic girdle bone morphology 7.5% Abnormality of retinal pigmentation 7.5% Abnormality of the palate 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Breast aplasia 7.5% Cataract 7.5% Cryptorchidism 7.5% Delayed eruption of teeth 7.5% Glomerulopathy 7.5% Hypertrophic cardiomyopathy 7.5% Nephrotic syndrome 7.5% Optic atrophy 7.5% Oral cleft 7.5% Platyspondyly 7.5% Seizures 7.5% Telangiectasia of the skin 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 Harrod Doman Keele syndrome ? | What are the signs and symptoms of Harrod Doman Keele syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Harrod Doman Keele 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% Abnormality of the palate 90% Abnormality of the pinna 90% Abnormality of the teeth 90% Arachnodactyly 90% Cognitive impairment 90% Hypotelorism 90% Intrauterine growth retardation 90% Long face 90% Microcephaly 90% Narrow face 90% Narrow mouth 90% Pointed chin 90% Abnormality of pelvic girdle bone morphology 50% Abnormality of the shoulder 50% Cataract 50% Cerebral cortical atrophy 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Hypopigmented skin patches 50% Joint hypermobility 50% Kyphosis 50% Multicystic kidney dysplasia 50% Scoliosis 50% Seizures 50% Abnormal facial shape - Aganglionic megacolon - Dental malocclusion - External genital hypoplasia - Failure to thrive - High palate - Hypospadias - Intellectual disability - Long nose - Macrotia - Malrotation of small bowel - Pyloric stenosis - Renal cortical microcysts - Varicose veins - 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 Aphalangia partial with syndactyly and duplication of metatarsal IV ? | What are the signs and symptoms of Aphalangia partial with syndactyly and duplication of metatarsal IV? The Human Phenotype Ontology provides the following list of signs and symptoms for Aphalangia partial with syndactyly and duplication of metatarsal IV. 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 fingernails 90% Aplasia/Hypoplasia of the distal phalanges of the toes 90% Microcephaly 90% Short distal phalanx of finger 90% Short stature 90% Abnormality of the metacarpal bones 50% Anonychia 50% Camptodactyly of finger 50% Hypoplastic toenails 50% Postaxial foot polydactyly 50% Split foot 50% Symphalangism affecting the phalanges of the hand 50% Toe syndactyly 50% Kyphoscoliosis 5% Aplasia/Hypoplasia of toe - Autosomal dominant inheritance - Cognitive impairment - Cutaneous finger syndactyly - Duplication of metatarsal bones - Intellectual disability - 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) X-linked hypophosphatemia ? | X-linked Hypophosphatemia (XLH) is an inherited metabolic disorder characterized by low phosphate levels in the blood that can lead to softening and weakening of bones (rickets) as a result of improper processing of phosphate in the kidneys leading to phosphate wasting. XLH is usually diagnosed in childhood, and clinical features include bone abnormalities such as bowed or bent legs, short stature, bone pain, and spontaneous dental abscesses. The condition is caused by mutations in the PHEX gene on the X chromosome, and is inherited in an X-linked dominant manner. Treatment generally involves phosphate supplementation along with high-dose calcitriol (active Vitamin D) and may also included growth hormones supplementation, corrective surgery, and dental treatment. With consistent treatment, prognosis is typically good, though growth rate may still be low. | |
What are the symptoms of X-linked hypophosphatemia ? | What are the signs and symptoms of X-linked hypophosphatemia? Symptoms of X-linked hypophosphatemia (XLH) usually begin in early childhood, though severity varies case by case. Early signs include skeletal abnormalities such as noticeably bowed or bent legs, short stature, and irregular growth of the skull. Overtime, symptoms may progress to include bone pain, joint pain caused by the calcification of tendons and ligaments, and spontaneous dental abscesses. Some people with XLH may also experience hearing loss, though this is highly variable and appears to be rare. The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked hypophosphatemia. 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 metaphyses 90% Bone pain 90% Genu varum 90% Premature loss of teeth 90% Craniofacial hyperostosis 50% Enthesitis 50% Osteoarthritis 50% Short stature 50% Hearing impairment 7.5% Recurrent fractures 7.5% Abnormality of pelvic girdle bone morphology - Arthralgia - Bowing of the legs - Elevated alkaline phosphatase - Elevated circulating parathyroid hormone (PTH) level - Femoral bowing - Fibular bowing - Flattening of the talar dome - Frontal bossing - Hypomineralization of enamel - Hypophosphatemia - Hypophosphatemic rickets - Metaphyseal irregularity - Osteomalacia - Phenotypic variability - Renal phosphate wasting - Renal tubular dysfunction - Shortening of the talar neck - Spinal canal stenosis - Spinal cord compression - Tibial bowing - Trapezoidal distal femoral condyles - 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 X-linked hypophosphatemia ? | What causes X-linked hypophosphatemia? X-linked hypophosphatemia (XLH) is caused by mutations in the PHEX gene on the X chromosome. Nearly 300 PHEX mutations have been associated with XLH. Mutations in this gene lead to an increase in the bodily concentration of fibroblast growth factor 23 (FGF23), a growth hormone that regulates phosphate reabsorption in the kidneys. Too much FGF23 causes phosphate wasting in the kidneys that prevents maintenance of proper phosphate levels in the blood and is responsible for the symptoms of XLH. | |
Is X-linked hypophosphatemia inherited ? | How is X-linked hypophosphatemia inherited? X-linked hypophosphatemia (XLH) is caused by mutations in the PHEX gene, and is inherited in an X-linked dominant manner. This means that the gene responsible for the condition is located on the X chromosome, and having only one mutated copy of the gene is enough to cause the condition in both males and females. A female with XLH has a 50% chance of passing along a mutation to each of her children. Since males only have one X-chromosome, a male with XLH will pass along the condition to all of his daughters, but not to his sons. PHEX mutations are inherited through families, but they can also occur spontaneously, explaining why some people with XLH may not have a previous family history. | |
How to diagnose X-linked hypophosphatemia ? | How is X-linked hypophosphatemia diagnosed? X-linked hypophosphatemia (XLH) is diagnosed based on clinical observations, biochemical testing, imaging, and family history. Observable signs include low growth rate and noticeable bowing of the legs. X-rays provide more information that can rule out other potential causes for these symptoms. Biochemical findings include low concentrations of phosphate in the blood accompanied by unexpectedly normal levels of vitamin Dand calcium. Elevated levels of FGF23 and phosphate excretion can also be measured. Genetic testing is also available, but is not required to make a diagnosis. Is genetic testing available for X-linked hypophosphatemia? X-linked hypophosphatemia is generally diagnosed based upon clinical findings. Genetic testing is available to confirm a suspected diagnosis, but is not required. Available methods include single gene sequencing and deletion/duplication analysis of the PHEX gene. However, these tests are not able to detect a causal genetic change in all people affected with XLH. Panel testing is also available that looks for variants in a number of genes associated with other types of hypophosphatemic rickets. | |
What are the treatments for X-linked hypophosphatemia ? | How might X-linked hypophosphatemia be treated? X-linked hypophosphatemia is different from other types of rickets because it cannot be treated by increasing vitamin D alone. Phosphate supplementation is generally required and is typically combined with a high dose of calcitriol, the activated form of vitamin D. Calcitriol increases calcium levels by promoting calcium absorption in the intestines, and calcium retention in kidneys. In children, treatment is usually initiated at the time of diagnosis and continues until bone growth is complete. The amount of phosphate and calcitriol are carefully monitored and adjusted to prevent the accumulation of calcium in the blood and kidneys, as these effects can harm the kidneys and other tissues. Hyperparathyroidism, an endocrine disorder characterized by weakness and fatigue, can also occur as a result of treatment, and doses may be modified to manage this secondary complication. The main treatment goal for adults is to help improve pain. As such, treatment duration and dosage vary based on individual needs. Other treatment options may include administration of growth hormones to improve short-term growth in children. Corrective surgery may be necessary to fix leg curvatures for children whose diagnosis was delayed, or whose initial treatment was not adequate. Additionally, skull abnormalities may require treatment for synostosis (premature closing of sutures in the brain). Spontaneous abscesses in the mouth may require dental procedures periodically. Recent clinical trials have investigated the potential of a new therapeutic antibody that inhibits fibroblast growth factor 23 (FGF23), a circulating hormone that causes phosphate wasting in the kidneys and is usually found in at high concentrations in people with XLH. These trials are ongoing, and more information can be found at clinicaltrials.gov. | |
What are the symptoms of Kozlowski Celermajer Tink syndrome ? | What are the signs and symptoms of Kozlowski Celermajer Tink syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kozlowski Celermajer Tink 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) Broad forehead 33% Highly arched eyebrow 33% Long philtrum 33% Sparse eyebrow 33% Aortic regurgitation - Aortic valve stenosis - Arthralgia - Arthropathy - Autosomal dominant inheritance - Autosomal recessive inheritance - Barrel-shaped chest - Bilateral single transverse palmar creases - Brachydactyly syndrome - Camptodactyly of finger - Coronal cleft vertebrae - Cubitus valgus - Decreased hip abduction - Delayed eruption of teeth - Delayed gross motor development - Delayed skeletal maturation - Deviation of the 5th finger - Elbow dislocation - Fixed elbow flexion - Flattened epiphysis - Generalized bone demineralization - Genu valgum - Hearing impairment - High palate - Hypertelorism - Hypoplasia of the capital femoral epiphysis - Hypoplasia of the ulna - Intervertebral space narrowing - Irregular vertebral endplates - Knee dislocation - Kyphoscoliosis - Limited hip extension - Lumbar hyperlordosis - Microdontia - Microtia - Mitral regurgitation - Mitral stenosis - Multiple carpal ossification centers - Narrow vertebral interpedicular distance - Pes planus - Pulmonary hypertension - Pulmonic stenosis - Rhizomelia - Short distal phalanx of finger - Short femoral neck - Short metacarpal - Short neck - Short phalanx of finger - Shoulder dislocation - Small epiphyses - Spondyloepiphyseal dysplasia - Talipes equinovarus - Tibial bowing - Tricuspid regurgitation - Tricuspid stenosis - Ulnar bowing - Ventricular hypertrophy - Ventricular septal defect - Waddling gait - Wide intermamillary distance - Widely spaced teeth - 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 Spinocerebellar ataxia 31 ? | What are the signs and symptoms of Spinocerebellar ataxia 31? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 31. 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) Late onset 50% Gaze-evoked horizontal nystagmus 33% Sensorineural hearing impairment 7.5% Ataxia - Autosomal dominant inheritance - Cerebellar atrophy - Dysarthria - Gait ataxia - Limb 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) WAGR syndrome ? | WAGR syndrome is a genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or mental retardation. WAGR is an acronym for Wilms tumor, Aniridia, Genitourinary anomalies (such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females), mental Retardation syndrome. A combination of two or more of these conditions is usually present in most individuals with WAGR syndrome. The syndrome is due to a microdeletion in the 11p13 region of chromosome 11. In most cases, this genetic change occurs spontaneously during early embryonic development (de novo) for unknown reasons (sporadic). Only rarely is the mutation inherited. | |
What are the symptoms of WAGR syndrome ? | What are the signs and symptoms of WAGR syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for WAGR 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) Aniridia 90% Aplasia/Hypoplasia of the iris 90% Cognitive impairment 90% Cataract 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Hearing abnormality 50% Hypospadias 50% Intellectual disability 50% Microcephaly 50% Nephroblastoma (Wilms tumor) 50% Nystagmus 50% Ptosis 50% Short stature 50% Visual impairment 50% Nephropathy 40% Abnormality of the vagina 33% Streak ovary 33% Abnormality of the uterus 7.5% Glaucoma 7.5% Gonadoblastoma 7.5% Hernia of the abdominal wall 7.5% Obesity 7.5% Scoliosis 7.5% Renal insufficiency 10/46 Autosomal dominant inheritance - Contiguous gene syndrome - Somatic mutation - 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) Pulmonary alveolar proteinosis acquired ? | Acquired pulmonary alveolar proteinosis (PAP) is a rare, acquired lung disorder characterized by the accumulation of grainy material consisting mostly of protein and fat (lipoproteinaceous material) in the air sacs of the lungs (alveoli). Most cases affect adults between the ages of 20-50. The symptoms can vary greatly; some individuals may not show symptoms, while others may experience progressive difficulty breathing and shortness of breath upon exertion. Other signs and symptoms may include a dry, chronic cough; fatigue; weight loss; chest pain; and a general feeling of ill health. In rare cases, the coughing up of blood, rounding and swelling of the tips of the fingers, and cyanosis may be present. Most cases occur for no known reason, but some cases may occur secondary to environmental exposures or underlying diseases; some researchers believe it may be an autoimmune disorder. The treatment varies from case to case depending upon the age of the affected individual and severity of the disease. Acquired PAP differs from congenital PAP, an extremely rare form of PAP that occurs in some newborns. | |
What are the symptoms of Pulmonary alveolar proteinosis acquired ? | What are the signs and symptoms of Pulmonary alveolar proteinosis acquired? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary alveolar proteinosis acquired. 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) Cyanosis 25% Alveolar proteinosis - Chest pain - Clubbing - Cough - Dyspnea - Hemoptysis - Hypoxemia - Insidious onset - Pneumonia - Polycythemia - Recurrent respiratory infections - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the treatments for Pulmonary alveolar proteinosis acquired ? | How might acquired pulmonary alveolar proteinosis be treated? The treatment of PAP varies from case to case depending upon the age of an affected individual and severity of the disease. Approximately one-third of individuals with idiopathic PAP (of unknown cause) will improve without treatment (spontaneous remission). The other two-thirds may be treated by a whole lung lavage, a procedure in which one lung is cleansed with a salt solution while the other is pumped with pure oxygen. In some cases, the procedure may need to be performed once; in others it may need to be repeated many times over several years. In secondary PAP (due to environmental exposure or an underlying disorder), removal and avoidance of the causative agent (e.g., silica exposure) or treatment of the underlying disorder may improve symptoms. Inhaled GM-CSF (granulocyte-macrophage colony-stimulating factor), a blood-stimulating medication, has been shown to improve the condition in some individuals with PAP. Lung transplantation has been used to treat adults with PAP as a last resort. According to the medical literature, in some cases, PAP has recurred in adults who have received lung transplantation. | |
What are the symptoms of Hereditary vascular retinopathy ? | What are the signs and symptoms of Hereditary vascular retinopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary vascular retinopathy. 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 retinal vasculature 90% Visual impairment 90% Abnormality of movement 50% Behavioral abnormality 50% Cerebral ischemia 50% Developmental regression 50% Hematuria 50% Hemiplegia/hemiparesis 50% Migraine 50% Nephropathy 50% Neurological speech impairment 50% Proteinuria 50% Retinopathy 50% Seizures 50% Cataract 7.5% Glaucoma 7.5% Incoordination 7.5% Micronodular cirrhosis 5% Abnormality of the musculature of the lower limbs - Abnormality of the periventricular white matter - Adult onset - Apraxia - Autosomal dominant inheritance - Central nervous system degeneration - Dementia - Dysarthria - Elevated erythrocyte sedimentation rate - Elevated hepatic transaminases - Hemiparesis - Limb pain - Lower limb hyperreflexia - Macular edema - Pigmentary retinal degeneration - Progressive - Progressive forgetfulness - Progressive visual loss - Punctate vasculitis skin lesions - Retinal exudate - Retinal hemorrhage - Stroke - Telangiectasia - Vasculitis in 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. | |
What are the symptoms of Juvenile myelomonocytic leukemia ? | What are the signs and symptoms of Juvenile myelomonocytic leukemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile myelomonocytic leukemia. 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) Juvenile myelomonocytic leukemia - Somatic mutation - 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 Johnson neuroectodermal syndrome ? | What are the signs and symptoms of Johnson neuroectodermal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Johnson neuroectodermal 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 genital system 90% Alopecia 90% Abnormality of the eyelashes 50% Abnormality of the pinna 50% Aplasia/Hypoplasia of the eyebrow 50% Carious teeth 50% Cognitive impairment 50% Conductive hearing impairment 50% Facial asymmetry 50% Facial palsy 50% Short stature 50% Abnormal nasal morphology 7.5% Abnormality of the sense of smell 7.5% Cafe-au-lait spot 7.5% Choanal atresia 7.5% Cleft palate 7.5% Developmental regression 7.5% Hypohidrosis 7.5% Microcephaly 7.5% Preaxial hand polydactyly 7.5% Tetralogy of Fallot 7.5% Choanal stenosis 5% Decreased testicular size 5% Micropenis 5% Patent ductus arteriosus 5% Retrognathia 5% Right aortic arch 5% Sparse hair 5% Ventricular septal defect 5% Absent eyebrow - Absent eyelashes - Anosmia - Atresia of the external auditory canal - Autosomal dominant inheritance - Hypogonadotrophic hypogonadism - Intellectual disability - Microtia - Multiple cafe-au-lait spots - Protruding ear - 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 Hyperinsulinemic hypoglycemia familial 2 ? | What are the signs and symptoms of Hyperinsulinemic hypoglycemia familial 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperinsulinemic hypoglycemia familial 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Hyperinsulinemic hypoglycemia - Hypoglycemia - Large for gestational age - Pancreatic islet-cell hyperplasia - 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) Perniosis ? | Perniosis are itchy and/or tender red or purple bumps that occur as a reaction to cold. In severe cases, blistering, pustules, scabs and ulceration may also develop. Occasionally, the lesions may be ring-shaped. They may become thickened and persist for months. Perniosis is a form of vasculitis. Signs and symptoms occur hours after cold exposure. Risk factors for perniosis include having poor blood circulation (such as due to diabetes or smoking), a family history of perniosis, poor nutrition, and low body weight. Perniosis may occur alone or in association with an autoimmune condition (e.g., lupus, scleroderma), bone marrow disorder, or cancer. Treatment aims to relieve symptoms and prevent infection. Lifestyle/adaptive changes may also be recommended to prevent future symptoms. | |
What are the symptoms of Prieto X-linked mental retardation syndrome ? | What are the signs and symptoms of Prieto X-linked mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Prieto X-linked mental retardation 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 nose 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Gait disturbance 90% Low-set, posteriorly rotated ears 90% Ventriculomegaly 90% Abnormal dermatoglyphics 50% Abnormality of the hip bone 50% Aplasia/Hypoplasia of the earlobes 50% Cryptorchidism 50% High forehead 50% Hypertelorism 50% Increased number of teeth 50% Muscular hypotonia 50% Neurological speech impairment 50% Optic atrophy 50% Patellar dislocation 50% Sacral dimple 50% Seizures 50% Abnormality of the pupil 7.5% Abnormality of the ribs 7.5% Delayed skeletal maturation 7.5% Epicanthus 7.5% Hernia of the abdominal wall 7.5% Nystagmus 7.5% Ptosis 7.5% Reduced bone mineral density 7.5% Strabismus 7.5% 11 pairs of ribs - Abnormality of the skin - Abnormality of the teeth - Cerebral atrophy - Clinodactyly - Coxa valga - Inguinal hernia - Intellectual disability - Low-set ears - Osteoporosis - Patellar subluxation - Prominent nose - Radial deviation of finger - Retrognathia - Talipes equinovarus - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Bronchiolitis obliterans organizing pneumonia ? | Bronchiolitis obliterans organizing pneumonia (BOOP) is a lung disease that causes inflammation in the small air tubes (bronchioles) and air sacs (alveoli). BOOP typically develops in individuals between 40-60 years old; however the disorder may affect individuals of any age. The signs and symptoms of BOOP vary but often include shortness of breath, a dry cough, and fever. BOOP can be caused by viral infections, various drugs, and other medical conditions. If the cause is known, the condition is called secondary BOOP. In many cases, the underlying cause of BOOP is unknown. These cases are called idiopathic BOOP or cryptogenic organizing pneumonia. Treatment often includes corticosteroid medications. | |
What are the symptoms of Bronchiolitis obliterans organizing pneumonia ? | What are the signs and symptoms of bronchiolitis obliterans organizing pneumonia (BOOP)? Signs and symptoms of BOOP vary. Some individuals with BOOP may have no apparent symptoms, while others may have severe respiratory distress as in acute, rapidly-progressive BOOP. The most common signs and symptoms of BOOP include shortness of breath (dyspnea), dry cough, and fever. Some people with BOOP develope a flu-like illness with cough, fever, fatigue, and weight loss. | |
What causes Bronchiolitis obliterans organizing pneumonia ? | What causes bronchiolitis obliterans organizing pneumonia (BOOP)? BOOP may be caused by a variety of factors, including viral infections, inhalation of toxic gases, drugs, connective tissue disorders, radiation therapy, cocaine, inflammatory bowl disease, and HIV infection. In many cases, the underlying cause of BOOP is unknown. These cases are called idiopathic BOOP or cryptogenic organizing pneumonia (COP). | |
How to diagnose Bronchiolitis obliterans organizing pneumonia ? | How is bronchiolitis obliterans organizing pneumonia (BOOP) diagnosed? BOOP is typically diagnosed by lung biopsy, although imaging tests and pulmonary function tests can also provide information for diagnosis. | |
What are the treatments for Bronchiolitis obliterans organizing pneumonia ? | How might bronchiolitis obliterans organizing pneumonia (BOOP) be treated? Most cases of BOOP respond well to treatment with corticosteroids. If the condition is caused by a particular drug, stopping the drug can also improve a patient's condition. Other medications reported in the medical literature to be beneficial for individuals on a case-by-case basis include: cyclophosphamide, erythromycin in the form of azithromycin, and Mycophenolate Mofetil (CellCept). More esearch is needed to determine the long-term safety and effectiveness of these potential treatment options for individuals with BOOP. In rare cases, lung transplantation may be necessary for individuals with BOOP who do not respond to standard treatment options. | |
What is (are) Autoimmune hemolytic anemia ? | Autoimmune hemolytic anemia (AIHA) occurs when your immune system makes antibodies that attack your red blood cells. This causes a drop in the number of red blood cells, leading to hemolytic anemia. Symptoms may include unusual weakness and fatigue with tachycardia and breathing difficulties, jaundice, dark urine and/or splenomegaly. AIHA can be primary (idiopathic) or result from an underlying disease or medication. The condition may develop gradually or occur suddenly. There are two main types of autoimmune hemolytic anemia: warm antibody hemolytic anemia and cold antibody hemolytic anemia. Treatment may include corticosteroids such as prednisone, splenectomy, immunosuppressive drugs and/or blood transfusions. | |
What are the symptoms of Autoimmune hemolytic anemia ? | What are the signs and symptoms of Autoimmune hemolytic anemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Autoimmune hemolytic anemia. 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) Autoimmunity 90% Hemolytic anemia 90% Migraine 90% Muscle weakness 90% Pallor 90% Respiratory insufficiency 90% Abnormality of the liver 50% Lymphoma 50% Abdominal pain 7.5% Abnormality of temperature regulation 7.5% Abnormality of urine homeostasis 7.5% Arrhythmia 7.5% Congestive heart failure 7.5% Splenomegaly 7.5% Abnormality of metabolism/homeostasis - Autoimmune hemolytic anemia - 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 Autoimmune hemolytic anemia ? | What causes autoimmune hemolytic anemia? In about half of cases, the cause of autoimmune hemolytic anemia cannot be determined (idiopathic or primary). This condition can also be caused by or occur with another disorder (secondary) or rarely, occur following the use of certain drugs (such as penicillin) or after a person has a blood and marrow stem cell transplant. Secondary causes of autoimmune hemolytic anemia include: Autoimmune diseases, such as lupus Chronic lymphocytic leukemia Non-Hodgkin's lymphoma and other blood cancers Epstein-Barr virus Cytomegalovirus Mycoplasma pneumonia Hepatitis HIV | |
Is Autoimmune hemolytic anemia inherited ? | Is autoimmune hemolytic anemia inherited? In many cases, the cause of autoimmune hemolytic anemia remains unknown. Some researchers believe that there are multiple factors involved, including genetic and environmental influences (multifactorial). In a very small number of cases, autoimmune hemolytic anemia appears to run in families. In these cases, it appears to follow an autosomal recessive pattern of inheritance. If you have concerns about the specific risks in your family, we encourage you to consult with a genetics professional. | |
What are the symptoms of Minicore myopathy with external ophthalmoplegia ? | What are the signs and symptoms of Minicore myopathy with external ophthalmoplegia? The Human Phenotype Ontology provides the following list of signs and symptoms for Minicore myopathy with external ophthalmoplegia. 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) Nemaline bodies 5% Areflexia - Autosomal recessive inheritance - Axial muscle weakness - Decreased fetal movement - Difficulty running - Exercise-induced myalgia - External ophthalmoplegia - Facial palsy - Feeding difficulties in infancy - Generalized muscle weakness - High palate - Hydrops fetalis - Increased connective tissue - Increased variability in muscle fiber diameter - Ligamentous laxity - Motor delay - Muscular dystrophy - Myopathic facies - Neonatal hypotonia - Neonatal onset - Polyhydramnios - Proximal muscle weakness - Ptosis - Pulmonary hypoplasia - Recurrent respiratory infections - Respiratory insufficiency - Scoliosis - Skeletal muscle atrophy - Type 1 and type 2 muscle fiber minicore regions - 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) Horizontal gaze palsy with progressive scoliosis ? | Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare disorder that affects vision and also causes an abnormal curvature of the spine (scoliosis). People with this condition are unable to move their eyes side-to-side (horizontally) and must turn their head instead of moving their eyes to track moving objects. Scoliosis develops in infancy or childhood and worsens over time. Scoliosis can be painful and may interfere with movement so it is often treated with surgery early in life. HGPPS is caused by changes (mutations) in the ROBO3 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person. | |
What are the symptoms of Horizontal gaze palsy with progressive scoliosis ? | What are the signs and symptoms of Horizontal gaze palsy with progressive scoliosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Horizontal gaze palsy with progressive scoliosis. 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) Kyphosis 90% Cognitive impairment 50% Nystagmus 50% Short neck 50% Seizures 7.5% Sensorineural hearing impairment 7.5% Autosomal recessive inheritance - Congenital onset - Horizontal supranuclear gaze palsy - Progressive ophthalmoplegia - Thoracolumbar scoliosis - 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 Renal tubular acidosis, distal, type 3 ? | What are the signs and symptoms of Renal tubular acidosis, distal, type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal tubular acidosis, distal, 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) Autosomal recessive inheritance - Bicarbonate-wasting renal tubular acidosis - Hypokalemia - Nephrocalcinosis - Nephrolithiasis - Osteomalacia - Periodic paralysis - Rickets - 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 Wittwer syndrome ? | What are the signs and symptoms of Wittwer syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wittwer 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 fontanelles or cranial sutures 90% Anteverted nares 90% Broad forehead 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Delayed skeletal maturation 90% EEG abnormality 90% Epicanthus 90% Frontal bossing 90% High forehead 90% Hypertelorism 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Neurological speech impairment 90% Seizures 90% Short stature 90% Single transverse palmar crease 90% Thin vermilion border 90% Abnormality of the ureter 50% Cryptorchidism 50% Sensorineural hearing impairment 50% Visual impairment 50% Abnormal lung lobation 7.5% Abnormality of the teeth 7.5% Abnormality of the thorax 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the eyebrow 7.5% Aplasia/Hypoplasia of the lungs 7.5% Corneal dystrophy 7.5% Displacement of the external urethral meatus 7.5% Intestinal malrotation 7.5% Optic atrophy 7.5% Premature graying of hair 7.5% Growth delay - Intellectual disability - 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 Chromosome 8p23.1 deletion ? | What are the signs and symptoms of Chromosome 8p23.1 deletion? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 8p23.1 deletion. 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% Intrauterine growth retardation 90% Abnormality of the nose 50% Abnormality of the palate 50% Abnormality of the pulmonary artery 50% Attention deficit hyperactivity disorder 50% Complete atrioventricular canal defect 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Epicanthus 50% External ear malformation 50% High forehead 50% Microcephaly 50% Narrow forehead 50% Neurological speech impairment 50% Seizures 50% Short neck 50% Short stature 50% Weight loss 50% Abnormality of the aorta 7.5% Abnormality of thumb phalanx 7.5% Congenital diaphragmatic hernia 7.5% Deeply set eye 7.5% Hypertrophic cardiomyopathy 7.5% Hypoplastic left heart 7.5% Obesity 7.5% Patent ductus arteriosus 7.5% Preaxial foot polydactyly 7.5% Proximal placement of thumb 7.5% Tetralogy of Fallot 7.5% Transposition of the great arteries 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Chiari malformation type 2 ? | Chiari malformation type 2 (CM type II) is a type of Chiari malformation in which both the cerebellum and brain stem tissue extend into the foramen magnum (the hole at the skull base for passing of the spinal cord). This form is often accompanied by a type of spina bifida called myelomeningocele, and can also be accompanied by syringomyelia, hydrocephalus, or other abnormalities. Symptoms in infants may include stridor (wheezing sound); difficulty swallowing (dysphagia); feeding difficulties; hypotonia; and weak cry. Symptoms in children and/or adults may include headache; fatigue; loss of vision; tingling extremities; nausea; dysphagia; dizziness; muscle weakness; and ataxia. Adults and adolescents who previously had no symptoms may begin to have symptoms later in life. The exact cause of the condition is not known but it appears to be due to a developmental failure of the brain stem and upper spine. The term Arnold-Chiari malformation is technically specific to type II but may sometimes be used to describe other types of Chiari malformations. | |
What are the symptoms of Chiari malformation type 2 ? | What are the signs and symptoms of Chiari malformation type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation 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) Agenesis of corpus callosum 33% Arnold-Chiari malformation - Ataxia - Bulbar signs - Cervical myelopathy - Cyanosis - Dysphagia - Feeding difficulties - Heterotopia - Hydrocephalus - Inspiratory stridor - Limb muscle weakness - Multifactorial inheritance - Muscular hypotonia - Nystagmus - Occipital neuralgia - Opisthotonus - Spina bifida - 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 Chiari malformation type 2 inherited ? | Is Chiari malformation type 2 inherited? Chiari malformation type 2 typically occurs sporadically (in individuals with no history of the condition in the family). However, the exact cause of Chiari malformation type 2 is not known. Genes may play a role in predisposing an individual to the condition, but environmental factors (such as lack of proper vitamins or nutrients in the maternal diet during pregnancy) may also contribute to the condition. Because the cause is unclear, it is not currently possible to estimate what the recurrence risk for family members may be. There have been reports in the medical literature of families in which more than one family member was affected with a Chiari malformation. However, a search of the available medical literature yields limited information specific to familial cases of Chiari malformation type 2. One article written by Lindenberg and Walker in 1971 describes the Arnold-Chiari malformation in 2 sisters; both also had hydrocephalus and meningomyelocele. | |
What are the symptoms of Cornea guttata with anterior polar cataract ? | What are the signs and symptoms of Cornea guttata with anterior polar cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Cornea guttata with anterior polar cataract. 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 polar cataract - Autosomal dominant inheritance - 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 Cataract anterior polar dominant ? | What are the signs and symptoms of Cataract anterior polar dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract anterior polar 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) Anterior polar cataract - 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 Brachydactyly types B and E combined ? | What are the signs and symptoms of Brachydactyly types B and E combined? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly types B and E combined. 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 - Brachydactyly syndrome - Broad distal phalanx of finger - Broad thumb - Concave nail - Short 4th finger - Short 4th metacarpal - Short 5th finger - Short 5th metacarpal - Short fifth metatarsal - Short thumb - 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 Rutherfurd syndrome ? | What are the signs and symptoms of Rutherfurd syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rutherfurd 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) Delayed eruption of teeth 90% Gingival overgrowth 90% Opacification of the corneal stroma 90% Reduced number of teeth 90% Behavioral abnormality 50% Cognitive impairment 50% Autosomal dominant inheritance - Corneal dystrophy - Delayed eruption of primary teeth - Failure of eruption of permanent teeth - 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) Mucoepidermoid carcinoma ? | Mucoepidermoid carcinoma is a type of cancer of the salivary glands. Salivary gland cancer is diagnosed in 2-3 individuals per 100,000 people each year, and 30-35% of these are mucoepidermoid carcinomas. Mucoepidermoid carcinoma develops when a cell randomly acquires changes (mutations) in genes that regulate how the cell divides such that it begins to grow quickly, forming a cluster of cells (a mass or lump). The earliest signs of a mucoepidermoid carcinoma may include a lump in the face, neck, or mouth; numbness, weakness, or pain in part of the face; or difficulty swallowing. Treatment often begins with surgery to remove the entire tumor. In some cases, radiation therapy and/or chemotherapy may be used after surgery to ensure that no cancer cells remain in the body. | |
What are the symptoms of Nystagmus, congenital motor, autosomal recessive ? | What are the signs and symptoms of Nystagmus, congenital motor, autosomal recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Nystagmus, congenital motor, autosomal recessive. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Congenital nystagmus - 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 Anauxetic dysplasia ? | What are the signs and symptoms of Anauxetic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Anauxetic 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) Autosomal recessive inheritance - Brachydactyly syndrome - Cervical cord compression - Cervical subluxation - Delayed ossification of carpal bones - Flared metaphysis - Hypertelorism - Hypodontia - Hypoplastic ilia - Intellectual disability - J-shaped sella turcica - Platyspondyly - Rhizomelia - Short finger - Short neck - Short toe - Small epiphyses - 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) Camptocormism ? | Camptocormia, camptocormism or "bent spine syndrome," (BSS) is an extreme forward flexion of the thoracolumbar spine, which often worsens during standing or walking, but completely resolves when laying down. The term itself is derived from the Greek "kamptos" (to bend) and "kormos" (trunk) BSS was initially considered, especially in wartime, as a result of a psychogenic disorder. It is now recognized that in it may also be related to a number of musculo-skeletal or neurological disorders. It seems that myopathy is the primary cause of camptocormia based on electromyography, magnetic resonance imaging/computed tomography (CT/MRI scans) of paraspinal muscles, and muscle biopsy. The majority of BSS of muscular origin is related to a primary idiopathic (with unknwon cause) axial myopathy of late onset, maybe a delayed-onset paraspinal myopathy, appearing in elderly patients. Causes of secondary BSS are numerous. The main causes are muscular disorders like inflammatory myopathies, muscular dystrophies of late onset, myotonic myopathies, endocrine and metabolic myopathies, and neurological disorders, principally Parkinsons disease. Diagnosis of axial myopathy is based upon CT/MRI scans demonstrating a lot of fatty infiltration of paravertebral muscles. General activity, walking with a cane, physiotherapy, and exercises should be encouraged. Treatment of secondary forms of BSS is dependent upon the cause. | |
What is (are) Thiamine responsive megaloblastic anemia syndrome ? | Thiamine-responsive megaloblastic anemia syndrome is a very rare condition characterized by hearing loss, diabetes, and a blood disorder called megaloblastic anemia. Affected individuals begin to show symptoms of this condition between infancy and adolescence. This syndrome is called "thiamine-responsive" because the anemia can be treated with high doses of vitamin B1 (thiamine). This condition is caused by mutations in the SLC19A2 gene and is inherited in an autosomal recessive fashion. | |
What are the symptoms of Thiamine responsive megaloblastic anemia syndrome ? | What are the signs and symptoms of Thiamine responsive megaloblastic anemia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thiamine responsive megaloblastic anemia 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) Macrocytic anemia 90% Sensorineural hearing impairment 90% Type I diabetes mellitus 90% Optic atrophy 50% Thrombocytopenia 50% Abnormality of retinal pigmentation 7.5% Cerebral ischemia 7.5% Congestive heart failure 7.5% Short stature 7.5% Sudden cardiac death 7.5% Visual impairment 7.5% Ataxia 5% Cardiomyopathy 5% Cryptorchidism 5% Gastroesophageal reflux 5% Seizures 5% Situs inversus totalis 5% Stroke 5% Abnormality of the skin - Aminoaciduria - Arrhythmia - Atria septal defect - Autosomal recessive inheritance - Cone/cone-rod dystrophy - Congenital septal defect - Diabetes mellitus - Hoarse voice - Nystagmus - Retinal degeneration - Sideroblastic anemia - Thiamine-responsive megaloblastic anemia - Ventricular septal defect - Visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Lenz microphthalmia syndrome ? | Lenz microphthalmia syndrome is a genetic disorder that causes abnormal development of the eyes and several other parts of the body. Eye symptoms vary, but may include underdeveloped (small) or absent eyes, cataract, nystagmus, coloboma (a gap or split in structures that make up the eye), and glaucoma. Eye symptoms may affect one or both eyes and may cause vision loss or blindness. Other signs and symptoms may include abnormalities of the ears, teeth, hands, skeleton, urinary system and occasionally heart defects. Around 60% of people with this condition have delayed development or intellectual disability ranging from mild to severe. Mutations in the BCOR gene cause some cases of Lenz microphthalmia syndrome. The other causative gene(s) have yet to be identified. This condition is inherited in an X-linked recessive fashion. | |
What are the symptoms of Lenz microphthalmia syndrome ? | What are the signs and symptoms of Lenz microphthalmia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lenz microphthalmia 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) Aplasia/Hypoplasia affecting the eye 90% Abnormality of dental morphology 50% Abnormality of the ureter 50% Camptodactyly of finger 50% Chorioretinal coloboma 50% Clinodactyly of the 5th finger 50% Cognitive impairment 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% External ear malformation 50% Finger syndactyly 50% Glaucoma 50% Iris coloboma 50% Low-set, posteriorly rotated ears 50% Microcephaly 50% Microcornea 50% Optic nerve coloboma 50% Oral cleft 50% Preaxial hand polydactyly 50% Renal hypoplasia/aplasia 50% Short stature 50% Abnormality of the clavicle 7.5% Abnormality of the palpebral fissures 7.5% Abnormality of the shoulder 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cataract 7.5% Delayed eruption of teeth 7.5% Hearing impairment 7.5% Hyperlordosis 7.5% Kyphosis 7.5% Long thorax 7.5% Neurological speech impairment 7.5% Nystagmus 7.5% Preauricular skin tag 7.5% Scoliosis 7.5% Seizures 7.5% Self-injurious behavior 7.5% Visual impairment 7.5% Webbed neck 7.5% Autistic behavior 5% Pulmonary hypoplasia 5% Abnormal palmar dermatoglyphics - Abnormality of the pinna - Aganglionic megacolon - Agenesis of maxillary lateral incisor - Aggressive behavior - Anal atresia - Anophthalmia - Bicuspid aortic valve - Blindness - Camptodactyly - Ciliary body coloboma - Cleft upper lip - Clinodactyly - Dental crowding - Down-sloping shoulders - Growth delay - High palate - Hydroureter - Hypospadias - Intellectual disability - Joint contracture of the hand - Kyphoscoliosis - Low-set ears - Lumbar hyperlordosis - Microphthalmia - Motor delay - Muscular hypotonia - Narrow chest - Overfolded helix - Pectus excavatum - Ptosis - Pyloric stenosis - Radial deviation of finger - Rectal prolapse - Recurrent otitis media - Renal hypoplasia - Self-mutilation - Short clavicles - Spastic diplegia - Syndactyly - 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) Tetra-amelia syndrome ? | Tetra-amelia syndrome is a very rare disorder characterized by the absence of all four limbs. This syndrome can also cause severe malformations of other parts of the body, including the face and head, heart, nervous system, skeleton, and genitalia. The lungs are underdeveloped in many cases, which makes breathing difficult or impossible. Because children with tetra-amelia syndrome have such serious medical problems, most are stillborn or die shortly after birth. The condition has been associated with a mutation in the WNT3 gene in one family, and it appears to be inherited in an autosomal recessive manner. | |
What are the symptoms of Tetra-amelia syndrome ? | What are the signs and symptoms of Tetra-amelia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetra-amelia 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 outer ear 90% Amelia 90% Aplasia/Hypoplasia involving the nose 90% Aplasia/Hypoplasia of the lungs 90% Hydrocephalus 90% Oral cleft 90% Polyhydramnios 90% Abnormal lung lobation 50% Abnormal vertebral ossification 50% Abnormality of the larynx 50% Abnormality of the ribs 50% Abnormality of the sense of smell 50% Aplasia/Hypoplasia of the corpus callosum 50% Aplasia/Hypoplasia of the nipples 50% Cataract 50% Cryptorchidism 50% Iris coloboma 50% Microcornea 50% Multicystic kidney dysplasia 50% Narrow mouth 50% Optic atrophy 50% Septo-optic dysplasia 50% Tracheal stenosis 50% Urogenital fistula 50% Abnormality of the diaphragm - Absent external genitalia - Adrenal gland agenesis - Anal atresia - Asplenia - Autosomal recessive inheritance - Choanal atresia - Cleft palate - Cleft upper lip - Gastroschisis - Heterogeneous - Hypoplasia of the fallopian tube - Hypoplastic pelvis - Low-set ears - Microphthalmia - Peripheral pulmonary vessel aplasia - Pulmonary hypoplasia - Renal agenesis - Single naris - Single umbilical artery - Tetraamelia - Urethral atresia - Vaginal atresia - 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. | |
How to diagnose Tetra-amelia syndrome ? | How is tetra-amelia syndrome diagnosed? The diagnosis of tetra-amelia syndrome can be established clinically (based on observed features) and is usually made on a routine prenatal ultrasound. The WNT3 gene has been associated with tetra-amelia syndrome, but the mutation detection frequency (how often a mutation will be found in an affected individual) is unknown because only a limited number of families have been studied. Is genetic testing available for tetra-amelia syndrome? Genetic testing for tetra-amelia syndrome is currently available. GeneTests lists the names of laboratories that are performing genetic testing for tetra-amelia syndrome. To view the contact information for the clinical laboratories conducting testing, click here. Please note: 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 is (are) Loeys-Dietz syndrome ? | Loeys-Dietz syndrome is a connective tissue disorder that causes aortic aneurysms, widely spaced eyes (hypertelorism), cleft palate and/or split uvula (the little piece of flesh that hangs down in the back of the mouth) and twisting or spiraled arteries (arterial tortuosity). Other findings include craniosynostosis, extropia (eyes that turn outward), micrognathia, structural brain abnormalities, intellectual deficit, and congenital heart disease. Signs and symptoms vary among individuals. This condition is inherited in an autosomal dominant manner with variable clinical expression. This condition is called Loeys-Dietz syndrome type 1 when affected individuals have cleft palate, craniosynostosis, and/or hypertelorism. Individuals without these features are said to have Loeys-Dietz syndrome type 2. The disease is caused by mutations in the TGFBR1, the TGFBR2, the SMAD3 or the TGFB2 genes. It is important to have an early and adequate treatment for the heart problems because the chance for aortic dissection and other vascular problems may be high in some patients. Many specialists may be involved for the best managment of the patient. | |
What are the symptoms of Loeys-Dietz syndrome ? | What are the signs and symptoms of Loeys-Dietz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Loeys-Dietz 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) Aneurysm 90% Aortic dissection 90% Arterial dissection 90% Dilatation of the ascending aorta 90% Patent ductus arteriosus 90% Pes planus 90% Uterine rupture 90% Arachnodactyly 50% Atypical scarring of skin 50% Blue sclerae 50% Camptodactyly of finger 50% Cleft palate 50% Disproportionate tall stature 50% Hypoplasia of the zygomatic bone 50% Scoliosis 50% Striae distensae 50% Abnormality of coagulation 7.5% Craniosynostosis 7.5% Joint dislocation 7.5% Joint hypermobility 7.5% Pectus carinatum 7.5% Pectus excavatum 7.5% Sudden cardiac death 7.5% Thin skin 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Ebstein's anomaly ? | Ebstein's anomaly is a rare heart defect in which parts of the tricuspid valve (which separates the right ventricle from the right atrium) are abnormal. The abnormality causes the tricuspid valve to leak blood backwards into the right atrium. The backup of blood flow can lead to heart swelling and fluid buildup in the lungs or liver. Sometimes, not enough blood gets out of the heart into the lungs and the person may appear blue. Symptoms range from mild to very severe. Treatment depends on the severity of the defect and may include medications, oxygen therapy, or surgery. | |
What are the symptoms of Ebstein's anomaly ? | What are the signs and symptoms of Ebstein's anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Ebstein's anomaly. 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 tricuspid valve 90% Atria septal defect 90% Premature birth 90% Respiratory insufficiency 90% Chest pain 50% Patent ductus arteriosus 50% Abnormality of the endocardium 7.5% Arterial thrombosis 7.5% Cerebral ischemia 7.5% Congestive heart failure 7.5% Sudden cardiac death 7.5% Autosomal recessive inheritance - Ebstein's anomaly of the tricuspid valve - Right bundle branch block - Ventricular preexcitation - 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) Idiopathic thrombocytopenic purpura ? | Idiopathic thrombocytopenic purpura (ITP) is a bleeding disorder characterized by too few platelets in the blood. This is because platelets are being destroyed by the immune system. Symptoms may include bruising, nosebleed or bleeding in the mouth, bleeding into the skin, and abnormally heavy menstruation. With treatment, the chance of remission (a symptom-free period) is good. Rarely, ITP may become a chronic ailment in adults and reappear, even after remission. | |
What are the symptoms of Idiopathic thrombocytopenic purpura ? | What are the signs and symptoms of Idiopathic thrombocytopenic purpura? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic thrombocytopenic purpura. 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 - Autosomal dominant inheritance - Platelet antibody positive - Thrombocytopenia - 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) Limb-girdle muscular dystrophy ? | Limb-girdle muscular dystrophy is a group of disorders which affect the voluntary muscles around the hips and shoulders. The conditions are progressive, leading to a loss of muscle strength and bulk over a number of years. Onset may occur in childhood, adolescence, young adulthood, or even later. Males and females are affected in equal numbers. Most forms of limb girdle muscular dystrophy are inherited in an autosomal recessive manner. Several rare forms are inherited in an autosomal dominant pattern. While there are no treatments which directly reverse the muscle weakness associated with this condition, supportive treatment can decrease the complications. There are at least 20 different types of limb-girdle muscular dystrophy. | |
Is Limb-girdle muscular dystrophy inherited ? | How is limb-girdle muscular dystrophy inherited? Limb-girdle muscular dystrophy (LGMD) is most often inherited in an autosomal recessive manner; less commonly, rare sub-types may be inherited in an autosomal dominant manner. There may be difficulties diagnosing the condition accurately, and often the mode of inheritance cannot be determined. Therefore, it may be challenging to determine the exact recurrence risks for some families. Establishing the type of LGMD in an affected individual can be useful for discussing the clinical course of the disease as well as for determining who else in the family may be at risk for the condition. | |
What are the treatments for Limb-girdle muscular dystrophy ? | How might limb-girdle muscular dystrophy be treated? Unfortunately, no definitive treatments or effective medications for the limb-girdle muscular dystrophies (LGMDs) currently exist. Management depends on each individual and the specific type of LGMD that the individual has. However, a general approach to managing LGMD has been proposed, based on the typical progression and complications of affected individuals. This approach may include: weight control to avoid obesity; physical therapy and stretching exercises to promote mobility and prevent contractures (fixed tightening of the muscles); use of mechanical aids such as canes, walkers, orthotics, and wheelchairs as needed to help ambulation and mobility; monitoring and surgical intervention as needed for orthopedic complications such as foot deformity and scoliosis; monitoring respiratory function and use of respiratory aids when needed; monitoring for evidence of cardiomyopathy in the types of LGMD with known occurrence of cardiac involvement; and social and emotional support and stimulation to maximize a sense of social involvement and productivity, and to reduce the sense of social isolation common in these disorders. | |
What are the symptoms of Macrothrombocytopenia progressive deafness ? | What are the signs and symptoms of Macrothrombocytopenia progressive deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Macrothrombocytopenia progressive deafness. 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 - Abnormality of the eye - Abnormality of the urinary system - Autosomal dominant inheritance - Bruising susceptibility - Giant platelets - Progressive sensorineural hearing impairment - Prolonged bleeding time - Thrombocytopenia - 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) Achondroplasia and severe combined immunodeficiency ? | Achondroplasia with severe combined immunodeficiency is an extremely rare type of SCID. The condition is characterized by the classic signs of SCID, including severe and recurrent infections, diarrhea, failure to thrive, and absence of T and B lymphocytes along with skeletal anomalies like short stature, bowing of the long bones and other abnormalities affecting the ends of the long bones (metaphyseal abnormalities). Children with this condition have a shortened life expectancy, generally surviving only into early childhood. Achondroplasia with severe combined immunodeficiency is inherited in an autosomal recessive manner. | |
What are the symptoms of Achondroplasia and severe combined immunodeficiency ? | What are the signs and symptoms of Achondroplasia and severe combined immunodeficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondroplasia and severe combined immunodeficiency. 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) Cellular immunodeficiency 90% Lymphopenia 90% Recurrent respiratory infections 90% Fine hair 50% Reduced bone mineral density 50% Short stature 50% Abnormality of the fibula 7.5% Abnormality of the pancreas 7.5% Aganglionic megacolon 7.5% Anemia 7.5% Cognitive impairment 7.5% Hernia of the abdominal wall 7.5% Hypopigmentation of hair 7.5% Malabsorption 7.5% Pectus excavatum 7.5% Abnormality of the thorax - Agammaglobulinemia - Autosomal recessive inheritance - Death in childhood - Hypoplasia of the thymus - Metaphyseal chondrodysplasia - Severe combined immunodeficiency - 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 Schimke X-linked mental retardation syndrome ? | What are the signs and symptoms of Schimke X-linked mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Schimke X-linked mental retardation 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) Choreoathetosis - External ophthalmoplegia - Growth delay - Hearing impairment - Intellectual disability - Postnatal microcephaly - 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 are the symptoms of Pallister W syndrome ? | What are the signs and symptoms of Pallister W syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pallister W 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) Acne 90% Broad forehead 90% Cognitive impairment 90% Eczema 90% Hypertonia 90% Macrotia 90% Mandibular prognathia 90% Narrow face 90% Short philtrum 90% Short stature 90% Strabismus 90% Wide nasal bridge 90% Camptodactyly of finger 50% Camptodactyly of toe 50% Cleft palate 50% Clinodactyly of the 5th finger 50% Cubitus valgus 50% Elbow dislocation 50% Hearing impairment 50% Hypertelorism 50% Median cleft lip 50% Non-midline cleft lip 50% Pes cavus 50% Seizures 50% Displacement of the external urethral meatus 7.5% Agenesis of central incisor - Agenesis of maxillary central incisor - Alternating esotropia - Broad nasal tip - Broad uvula - Camptodactyly - Clinodactyly - Depressed nasal bridge - Frontal bossing - Frontal upsweep of hair - Hypoplasia of the ulna - Intellectual disability - Joint contracture of the hand - Pes planus - Radial bowing - Radial deviation of finger - Spasticity - Submucous cleft hard palate - Telecanthus - 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 Immotile cilia syndrome, due to defective radial spokes ? | What are the signs and symptoms of Immotile cilia syndrome, due to defective radial spokes? The Human Phenotype Ontology provides the following list of signs and symptoms for Immotile cilia syndrome, due to defective radial spokes. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent respiratory ciliary axoneme radial spokes - Autosomal recessive inheritance - Chronic rhinitis - Ciliary dyskinesia - Immotile cilia - Nasal polyposis - Nonmotile sperm - Sinusitis - 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) Joubert syndrome ? | Joubert syndrome is disorder of abnormal brain development that may affect many parts of the body. It is characterized by the absence or underdevelopment of the cerebellar vermis (a part of the brain that controls balance and coordination) and a malformed brain stem (connection between the brain and spinal cord). This gives a characteristic appearance of a molar tooth sign on MRI. Signs and symptoms can vary but commonly include weak muscle tone (hypotonia); abnormal breathing patterns; abnormal eye movements; ataxia; distinctive facial features; and intellectual disability. Various other abnormalities may also be present. Joubert syndrome may be caused by mutations in any of many genes and is predominantly inherited in an autosomal recessive manner. Rarely it may be inherited in an X-linked recessive manner. Treatment is supportive and depends on the symptoms in each person. | |
What are the symptoms of Joubert syndrome ? | What are the signs and symptoms of Joubert syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Joubert 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) Aplasia/Hypoplasia of the cerebellum 90% Apnea 90% Cognitive impairment 90% Incoordination 90% Muscular hypotonia 90% Oculomotor apraxia 90% Gait disturbance 50% Long face 50% Narrow forehead 50% Nystagmus 50% Abnormality of neuronal migration 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Aganglionic megacolon 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Encephalocele 7.5% Foot polydactyly 7.5% Hand polydactyly 7.5% Highly arched eyebrow 7.5% Hydrocephalus 7.5% Iris coloboma 7.5% Low-set, posteriorly rotated ears 7.5% Oral cleft 7.5% Prominent nasal bridge 7.5% Ptosis 7.5% Scoliosis 7.5% Seizures 7.5% Situs inversus totalis 7.5% Strabismus 7.5% Tremor 7.5% Occipital myelomeningocele 5% Renal cyst 5% Retinal dysplasia 5% Abnormality of saccadic eye movements - Abnormality of the foot - Agenesis of cerebellar vermis - Aggressive behavior - Ataxia - Autosomal recessive inheritance - Brainstem dysplasia - Central apnea - Cerebellar vermis hypoplasia - Chorioretinal coloboma - Dysgenesis of the cerebellar vermis - Elongated superior cerebellar peduncle - Enlarged fossa interpeduncularis - Epicanthus - Episodic tachypnea - Hemifacial spasm - Hepatic fibrosis - Heterogeneous - Hyperactivity - Hypoplasia of the brainstem - Impaired smooth pursuit - Intellectual disability - Low-set ears - Macrocephaly - Macroglossia - Molar tooth sign on MRI - Neonatal breathing dysregulation - Optic nerve coloboma - Phenotypic variability - Postaxial hand polydactyly - Prominent forehead - Protruding tongue - Retinal dystrophy - Self-mutilation - Triangular-shaped open mouth - 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 Joubert syndrome ? | What causes Joubert syndrome? Joubert syndrome and related disorders may be caused by changes (mutations) in any of many genes (some of which are unknown). The proteins made from these genes are either known, or thought, to affect cell structures called cilia. Cilia are projections on the cell surface that play a role in signaling. They are important for many cell types, including neurons, liver cells and kidney cells. Cilia also play a role in the senses such as sight, hearing, and smell. Mutations in the genes responsible for Joubert syndrome and related disorders cause problems with the structure and function of cilia, likely disrupting important signaling pathways during development. However, it is still unclear how specific developmental abnormalities result from these problems. | |
Is Joubert syndrome inherited ? | How is Joubert syndrome inherited? Joubert syndrome is predominantly inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier. In rare cases, when Joubert syndrome is caused by mutations in the OFD1 gene on the X chromosome, it is inherited in an X-linked recessive manner. X-linked recessive conditions usually occur in males, who only have one X chromosome (and one Y chromosome). Females have two X chromosomes, so if they have a mutation on one X chromosome, they still have a working copy of the gene on their other X chromosome and are typically unaffected. While females can have an X-linked recessive condition, it is very rare. If a mother is a carrier of an X-linked recessive condition and the father is not, the risk to children depends on each child's sex. Each male child has a 50% chance to be unaffected, and a 50% chance to be affected Each daughter has a 50% chance to be unaffected, and a 50% chance to be an unaffected carrier If a father has the condition and the mother is not a carrier, all sons will be unaffected, and all daughters will be unaffected carriers. | |
What is (are) Ewing sarcoma ? | Ewing sarcoma is a malignant (cancerous) bone tumor that affects children. It can occur any time during childhood and young adulthood, but usually develops during puberty, when bones are growing rapidly. The tumor may arise anywhere in the body, usually in the long bones of the arms and legs, the pelvis, or the chest. It may also develop in the skull or the flat bones of the trunk. There are few symptoms. The most common is pain and occasionally swelling at the site of the tumor. Fever may also be present. The tumor often spreads (metastasis) to the lungs and other bones. The cause of Ewing sarcoma is unknown. Most cases are thought to occur randomly and many involved a reciprocal translocation between chromosomes 11 and 22. Treatment depends upon a number of factors, but may include chemotherapy, radiation and/or surgical interventions. | |
What are the symptoms of Ewing sarcoma ? | What are the signs and symptoms of Ewing sarcoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Ewing sarcoma. 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) Ewing's sarcoma - Somatic mutation - 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 Ewing sarcoma ? | What causes Ewing sarcoma? The exact cause of Ewing sarcoma remains largely unknown. Chromosomal studies have found that Ewing sarcoma cells are often characterized by an abnormal change in their genetic makeup known as a reciprocal translocation. The most common mutation, occurring in approximately 85% of Ewing sarcoma tumors, involves two genes, the EWSR1 gene on chromosome 22 and the FLI1 gene on chromosome 11. This rearrangement of genetic material between chromosomes 22 and 11 fuses part of the EWSR1 gene with part of the FLI1 gene, creating the EWSR1/FLI1 fusion gene. This mutation is acquired during a person's lifetime and is present only in tumor cells. This type of genetic change, called a somatic mutation, is not inherited. In extremely rare cases, Ewing sarcoma may develop as a second malignancy, which means that the condition develops as a late-onset complication of earlier treatment for another form of cancer. | |
Is Ewing sarcoma inherited ? | Is Ewing sarcoma an inherited condition? This condition is generally not inherited but arises from a mutation in the body's cells that occurs after conception (somatic mutation). Most cases are considered to be sporadic. However, the incidence of neuroectodermal and stomach malignancies is increased among family members of patients with tumors of the Ewing sarcoma family. A search of the medical literature did identify a very small number of cases of Ewing sarcoma among siblings. To access articles on this topic, click here. | |
What is (are) Fowler's syndrome ? | Fowlers syndrome is characterized by urinary retention associated with abnormal electromyographic activity in young women in the absence of overt neurologic disease. Some women with this syndrome have polycystic ovaries as well. | |
What are the symptoms of Fowler's syndrome ? | What are the signs and symptoms of Fowler's syndrome? Fowlers syndrome typically occurs in premenopausal women (often in women under 30 years of age) who are unable to void for a day or more with no feeling of urinary urgency, but with increasing lower abdominal discomfort. The Human Phenotype Ontology provides the following list of signs and symptoms for Fowler's 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 urethra 90% Acne 90% Hypertrichosis 90% Polycystic ovaries 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 causes Fowler's syndrome ? | What causes Fowlers syndrome? The cause of Fowler's syndrome is not known. The association of Fowlers syndrome and polycystic ovaries in some patients raises the possibility that the syndrome is linked in some way to impaired muscle membrane stability, owing possibly to a hormonal abnormality. The involvement of such a hormonal abnormality may also explain why it primarily affects premenopausal women. | |
How to diagnose Fowler's syndrome ? | How is Fowlers syndrome diagnosed? Diagnosis of Fowlers syndrome involves ruling out neurological or laboratory features that would support a diagnosis of a underlying neurological disease, and identification of a bladder capacity of over 1 liter with no sensation of urgency. Also in Fowlers syndrome, analysis of the striated muscle of the urethral sphincter using concentric needle electrode examination reveals a fairly unique electromyographic (EMG) abnormality. This EMG abnormality is found in association with the urethral sphincter (group of muscles which surround the urinary passage below the bladder), and consists of a type of activity that would be expected to cause inappropriate contraction of the muscle (i.e., impair sphincter relaxation). | |
What are the treatments for Fowler's syndrome ? | How might Fowlers syndrome be treated? The urinary incontinence caused by Fowlers syndrome may be treated by sacral neuromodulation therapy. The success rate for treatment of Fowlers syndrome with neuromodulation has been estimated to be around 70%, even in women who have been experiencing symptoms for a while. Neuromodulation therapy involves the stimulation of nerves to the bladder leaving the spine. The FDA has approved a device called InterStim for this purpose. Your doctor will need to test to determine if this device would be helpful to you. The doctor applies an external stimulator to determine if neuromodulation works in you. If you have a 50 percent reduction in symptoms, a surgeon will implant the device. Although neuromodulation can be effective, it is not for everyone. The therapy is expensive, involving surgery with possible surgical revisions and replacement. Other treatments that have been tried with little success include hormonal manipulation, pharmacologic therapy, and injections of botulinum toxin. | |
What is (are) Dermatofibrosarcoma protuberans ? | Dermatofibrosarcoma protuberans is an uncommon cancer in which tumors arise in the deeper layers of skin. The tumor usually starts as a small, firm patch of skin; it may be purplish, reddish, or flesh-colored. It is commonly found on the torso, usually in the shoulder and chest area. The tumor typically grows slowly but has a tendency to recur after being removed. It rarely spreads to other parts of the body. The cause of DFSP is unknown, but injury to the affected skin may be a predisposing factor. Treatment usually involves surgically removing the tumor. If the tumor is unable to be removed completely, additional therapy may be needed. Regular follow-up is important to monitor for recurrence. | |
What are the symptoms of Dermatofibrosarcoma protuberans ? | What are the signs and symptoms of Dermatofibrosarcoma protuberans? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatofibrosarcoma protuberans. 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 skin 90% Sarcoma 90% Thickened skin 90% Skin ulcer 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 Dermatofibrosarcoma protuberans ? | What causes Dermatofibrosarcoma protuberans? The cause of DFSP is unknown but an injury to the affected skin may be a predisposing factor. Trauma at the affected site has been reported in approximately 10-20% of patients. Recent advances have shown that in approximately 90% of cases, dermatofibrosarcoma protuberans is associated with a rearrangement (translocation) of genetic material between chromosomes 17 and 22 which results in the fusion of two genes. The fused gene produces a protein which some believe may stimulate cells to multiply, leading to the tumor formation seen in dermatofibrosarcoma protuberans. This type of gene change is generally found only in tumor cells and is not inherited. | |
What are the symptoms of Aplasia cutis congenita of limbs recessive ? | What are the signs and symptoms of Aplasia cutis congenita of limbs recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Aplasia cutis congenita of limbs recessive. 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) Finger syndactyly 7.5% Skin ulcer 7.5% Toe syndactyly 7.5% Aplasia cutis congenita - Autosomal recessive inheritance - Congenital absence of skin of limbs - 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. |
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