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What are the symptoms of Spondylocostal dysostosis 4 ? | What are the signs and symptoms of Spondylocostal dysostosis 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocostal dysostosis 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... |
What is (are) Axial spondylometaphyseal dysplasia ? | Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones. Axial spondylometaphyseal dysplasia primarily affects the bones of the ches... |
What are the symptoms of Axial spondylometaphyseal dysplasia ? | What are the signs and symptoms of Axial spondylometaphyseal dysplasia? Common signs and sympotms of axial spondylometaphyseal dysplasia, include short stature, chest, spine, limb, and pelvic bone changes, and vision disturbance. People with axial spondylometaphyseal dysplasia may have a normal birth length, but demons... |
What are the treatments for Axial spondylometaphyseal dysplasia ? | How might axial spondylometaphyseal dysplasia be treated? Is growth hormone therapy an option? Is surgery helpful? Can the vision problems be corrected? There is no specific treatment for axial spondylometaphyseal dysplasia. Symptoms such as lung infections, breathing difficulties, coxa vara, scoliosis, retinitis pigme... |
What are the symptoms of Spastic paraplegia 4 ? | What are the signs and symptoms of Spastic paraplegia 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dic... |
What are the symptoms of Pyridoxal 5'-phosphate-dependent epilepsy ? | What are the signs and symptoms of Pyridoxal 5'-phosphate-dependent epilepsy? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyridoxal 5'-phosphate-dependent epilepsy. If the information is available, the table below includes how often the symptom is seen in people with this conditio... |
What is (are) Wyburn Mason's syndrome ? | Wyburn Mason's syndrome is a condition in which blood vessels do not form correctly in both the retina of one eye and a part of the brain. These malformed blood vessels are called arteriovenous malformations (AVM). Wyburn Mason's syndrome is present from birth (congenital) and the cause is unknown. Individuals with ... |
What are the symptoms of Wyburn Mason's syndrome ? | What are the signs and symptoms of Wyburn Mason's syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wyburn Mason'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 Medic... |
What is (are) Cramp-fasciculation syndrome ? | Cramp-fasciculation syndrome (CFS) is a rare condition of the muscles. Affected people have persistent muscle twitching (fasciculations) and cramping, which can lead to muscle discomfort, pain, or tiredness. Muscles in the leg are most commonly affected, although this condition may involve several parts of the body. Sy... |
What are the symptoms of Cramp-fasciculation syndrome ? | What are the signs and symptoms of cramp-fasciculation syndrome? Cramp-fasciculation syndrome (CFS) is primarily associated with severe muscle cramps and muscle twitches occurring in otherwise healthy people. These symptoms are often triggered by physical activity and may be relieved by stretching exercises and/or mass... |
What causes Cramp-fasciculation syndrome ? | What causes cramp-fasciculation syndrome? In many cases, the exact underlying cause of cramp-fasciculation syndrome (CFS) is unknown (idiopathic). In general, it is thought to be related to abnormal excitability (overactivity) of peripheral neurons. Some cases of CFS are associated with: Genetic disorders Autoimmune co... |
How to diagnose Cramp-fasciculation syndrome ? | How is cramp-fasciculation syndrome diagnosed? A diagnosis of cramp-fasciculation syndrome is generally based on the presence of characteristic signs and symptoms. Namely, a history of frequent muscle cramps, twitching, and pain (often worsened by exercise) without muscle weakness or wasting is suggestive of the condi... |
What are the treatments for Cramp-fasciculation syndrome ? | How might cramp-fasciculation syndrome be treated? There is limited information in the medical literature about the treatment of cramp-fasciculation syndrome (CFS). Much of what is available describes individual cases. Some people with CFS improve without treatment. Treatment with carbamazepine, gabapentin, or pregabal... |
What is (are) Shapiro syndrome ? | Shapiro syndrome is a rare disease affecting about 50 people worldwide that is typically characterized by recurrent episodes of excessive sweating and hypothermia and the agenesis of the corpus callosum. The duration and frequency of the episodes vary from person to person, with some episodes lasting hours to weeks and... |
What are the symptoms of Shapiro syndrome ? | What are the signs and symptoms of Shapiro syndrome? Shapiro syndrome generally consists of three findings: spontaneous periodic hypothermia, excessive sweating, and agenesis of the corpus callosum. However, there has been a documented case of a 4-year-old girl with Shapiro syndrome who did not have agenesis of the cor... |
What are the treatments for Shapiro syndrome ? | What treatment options have been attempted for Shapiro syndrome? Evaluating effective treatment options for Shapiro syndrome can be difficult because of the limited number of diagnosed cases, the periodic nature of the disease, and other factors. Nonetheless, the following have been attempted and have resulted in varyi... |
What are the symptoms of Hairy palms and soles ? | What are the signs and symptoms of Hairy palms and soles? The Human Phenotype Ontology provides the following list of signs and symptoms for Hairy palms and soles. 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 D... |
What are the symptoms of Nephrosis deafness urinary tract digital malformation ? | What are the signs and symptoms of Nephrosis deafness urinary tract digital malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephrosis deafness urinary tract digital malformation. If the information is available, the table below includes how often the symptom is seen in p... |
What is (are) Chorea-acanthocytosis ? | Chorea-acanthocytosis is one of a group of conditions called the neuroacanthocytoses that involve neurological problems and abnormal red blood cells. The condition is characterized by involuntary jerking movements (chorea), abnormal star-shaped red blood cells (acanthocytosis), and involuntary tensing of various muscle... |
What are the symptoms of Chorea-acanthocytosis ? | What are the signs and symptoms of Chorea-acanthocytosis? Chorea-acanthocytosis affects movement in many parts of the body. Chorea refers to the involuntary jerking movements made by people with this disorder. People with this condition also have abnormal star-shaped red blood cells (acanthocytosis). Another common fea... |
Is Chorea-acanthocytosis inherited ? | How do people inherit chorea-acanthocytosis? Chorea-acanthocytosis is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show s... |
What are the treatments for Chorea-acanthocytosis ? | How is chorea-acanthocytosis treated? There are currently no treatments to prevent or slow the progression of chorea-acanthocytosis; treatment is symptomatic and supportive. Management may include: botulinum toxin for decreasing the oro-facio-lingual dystonia; feeding assistance; speech therapy; mechanical protective d... |
What are the symptoms of Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities ? | What are the signs and symptoms of Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities. If the information is available, the table below includes ho... |
What is (are) Farber's disease ? | Farber's disease is an inherited condition involving the breakdown and use of fats in the body (lipid metabolism). People with this condition have an abnormal accumulation of lipids (fat) throughout the cells and tissues of the body, particularly around the joints. Farber's disease is characterized by three classic sym... |
What are the symptoms of Farber's disease ? | What are the signs and symptoms of Farber's disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Farber's 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 ... |
What are the symptoms of Rienhoff syndrome ? | What are the signs and symptoms of Rienhoff syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rienhoff 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 Dictionar... |
What is (are) Osteopetrosis autosomal recessive 2 ? | Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder ... |
What are the symptoms of Osteopetrosis autosomal recessive 2 ? | What are the signs and symptoms of Osteopetrosis autosomal recessive 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... |
What are the symptoms of Bangstad syndrome ? | What are the signs and symptoms of Bangstad syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bangstad 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 Dictionar... |
What is (are) Spinocerebellar ataxia 13 ? | Spinocerebellar ataxia 13 (SCA13) is a rare sub-type of spinocerebellar ataxias, a group of neurological conditions characterized by degeneration of the brain and spinal cord. Signs and symptoms of SCA13 appear to vary among affected people and range from childhood-onset, slowly progressive gait ataxia and dysarthria (... |
What are the symptoms of Spinocerebellar ataxia 13 ? | What are the signs and symptoms of Spinocerebellar ataxia 13? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 13. 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 M... |
What is (are) Vohwinkel syndrome ? | Vohwinkel syndrome is an inherited condition that affects the skin. People with the "classic form" generally have honeycomb-patterned calluses on the palms of the hands and the soles of the feet (palmoplantar keratoses); constricting bands of tissue on the fingers and toes which can cause amputation; starfish-shaped, t... |
What are the symptoms of Vohwinkel syndrome ? | What are the signs and symptoms of Vohwinkel syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Vohwinkel 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 Diction... |
What are the symptoms of Joubert syndrome 2 ? | What are the signs and symptoms of Joubert syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Joubert syndrome 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 Diction... |
What are the symptoms of Accessory deep peroneal nerve ? | What are the signs and symptoms of Accessory deep peroneal nerve? The Human Phenotype Ontology provides the following list of signs and symptoms for Accessory deep peroneal nerve. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... |
What is (are) 15q13.3 microduplication syndrome ? | 15q13.3 microduplication syndrome is a rare chromosome abnormality first described in 2009. Since only a small number of individuals with this microduplication have been reported, the full range of effects is still being discovered. What is known is that the symptoms are variable, even between members of the same famil... |
What are the symptoms of Hyperlipoproteinemia type 5 ? | What are the signs and symptoms of Hyperlipoproteinemia type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperlipoproteinemia type 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... |
What are the symptoms of Ichthyosiform erythroderma, corneal involvement, deafness ? | What are the signs and symptoms of Ichthyosiform erythroderma, corneal involvement, deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosiform erythroderma, corneal involvement, deafness. If the information is available, the table below includes how often the symptom is s... |
What is (are) Lipoid proteinosis of Urbach and Wiethe ? | Lipoid proteinosis (LP) of Urbach and Wiethe is a rare condition that affects the skin and the brain. The signs and symptoms of this condition and the disease severity vary from person to person. The first sign of LP is usually a hoarse cry during infancy. Affected children then develop characteristic growths on the sk... |
What are the symptoms of Lipoid proteinosis of Urbach and Wiethe ? | What are the signs and symptoms of Lipoid proteinosis of Urbach and Wiethe? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipoid proteinosis of Urbach and Wiethe. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... |
What are the treatments for Lipoid proteinosis of Urbach and Wiethe ? | How might lipoid proteinosis of Urbach and Wiethe be treated? There is currently no cure for lipoid proteinosis (LP) of Urbach and Wiethe. Treatment is based on the signs and symptoms present in each person. The skin abnormalities found in people affected by LP may be treated with certain medications, including cortico... |
What is (are) 5q14.3 microdeletion syndrome ? | 5q14.3 microdeletion syndrome is characterized by severe intellectual disability, absent speech, stereotypic movements and epilepsy. Unusual facial features include high broad forehead with variable small chin, short nose with anteverted nares (nostrils that open to the front rather than downward), large open mouth, up... |
What are the symptoms of 5q14.3 microdeletion syndrome ? | What are the signs and symptoms of 5q14.3 microdeletion syndrome ? The Human Phenotype Ontology provides the following list of signs and symptoms for 5q14.3 microdeletion syndrome . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... |
What are the symptoms of Larynx, congenital partial atresia of ? | What are the signs and symptoms of Larynx, congenital partial atresia of? The Human Phenotype Ontology provides the following list of signs and symptoms for Larynx, congenital partial atresia of. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... |
What are the symptoms of Larsen-like syndrome ? | What are the signs and symptoms of Larsen-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Larsen-like 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 Dic... |
What are the symptoms of Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis ? | What are the signs and symptoms of Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis. If the information is available, the table below includes how ... |
What are the symptoms of Microcephaly, corpus callosum dysgenesis and cleft lip-palate ? | What are the signs and symptoms of Microcephaly, corpus callosum dysgenesis and cleft lip-palate? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly, corpus callosum dysgenesis and cleft lip-palate. If the information is available, the table below includes how often the symp... |
What is (are) Spinocerebellar ataxia autosomal recessive 7 ? | Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cer... |
What are the symptoms of Spinocerebellar ataxia autosomal recessive 7 ? | What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive 7. If the information is available, the table below includes how often the symptom is seen in people with this co... |
What is (are) Chronic fatigue syndrome ? | Chronic fatigue syndrome, also known as systemic exertion intolerance disease, is a condition that causes extreme, long-lasting fatigue which can limit the ability to participate in ordinary, daily activities. It generally occurs in young adults between the ages of 20 and 40 and is twice as common in women. The main s... |
How to diagnose Chronic fatigue syndrome ? | How is chronic fatigue syndrome diagnosed? No specific diagnostic tests are available. Though there is no definitive diagnostic test, the diagnosis can be made if the patient has a typical history, and no abnormality can be detected on the exam or in the screening tests. The Committee on the Diagnostic Criteria for ... |
What are the treatments for Chronic fatigue syndrome ? | How might chronic fatigue syndrome be treated? Treatment options for chronic fatigue syndrome (CFS) are limited.[9440] Treatment is largely supportive and is focused on the specific symptoms present in each individual. In most cases, symptoms of CFS lessen over time. Many therapies have been tried, but only cognitive b... |
What are the symptoms of Annular pancreas ? | What are the signs and symptoms of Annular pancreas? The Human Phenotype Ontology provides the following list of signs and symptoms for Annular pancreas. 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 ... |
What is (are) Polyarteritis nodosa ? | Polyarteritis nodosa is a serious blood vessel disease in which medium-sized arteries become swollen and damaged. It occurs when certain immune cells attack the affected arteries preventing vital oxygen and nourishment. Signs and symptoms may include fever, fatigue, weakness, loss of appetite, weight loss, muscle and j... |
What are the symptoms of Polyarteritis nodosa ? | What are the signs and symptoms of Polyarteritis nodosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Polyarteritis nodosa. 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 Dic... |
What are the treatments for Polyarteritis nodosa ? | How might polyarteritis nodosa be treated? Few people with polyarteritis nodosa have mild disease that remains stable with nonaggressive therapy; because of the risk for serious health complications, aggressive therapy is often recommended. Treatment may include prednisone in divided doses. Additional therapy, such as ... |
What are the symptoms of Adrenocortical carcinoma ? | What are the signs and symptoms of Adrenocortical carcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Adrenocortical carcinoma. 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 Med... |
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 th... |
What are the symptoms of Hypohidrotic ectodermal dysplasia with immune deficiency ? | What are the signs and symptoms of Hypohidrotic ectodermal dysplasia with immune deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypohidrotic ectodermal dysplasia with immune deficiency. If the information is available, the table below includes how often the symptom is see... |
What is (are) Bladder cancer ? | Bladder cancer is a form of cancer that occurs due to abnormal and uncontrolled cell growth in the bladder. Signs and symptoms of the condition may include abdominal pain, blood in the urine, fatigue, painful urination, frequent urination, incontinence, and/or weightloss. Most cases of bladder cancer occur sporadically... |
What are the symptoms of Bladder cancer ? | What are the signs and symptoms of Bladder cancer? The Human Phenotype Ontology provides the following list of signs and symptoms for Bladder cancer. 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 l... |
What is (are) CREST syndrome ? | CREST syndrome, also known as limited scleroderma, is a widespread connective tissue disease characterized by changes in the skin, blood vessels, skeletal muscles, and internal organs. The symptoms involved in CREST syndrome are associated with the generalized form of the disease systemic sclerosis (scleroderma). CREST... |
What are the symptoms of CREST syndrome ? | What are the signs and symptoms of CREST syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CREST 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 l... |
What causes CREST syndrome ? | What causes CREST syndrome? In people with CREST syndrome, the immune system appears to stimulate cells called fibroblasts to produce excess amounts of collagen. Normally, fibroblasts synthesize collagen to help heal wounds, but in this case, the protein is produced even when it's not needed, forming thick bands of con... |
How to diagnose CREST syndrome ? | How is CREST syndrome diagnosed? CREST syndrome can be difficult to diagnose. Signs and symptoms vary widely and often resemble those of other connective tissue and autoimmune diseases. Further complicating matters is that limited scleroderma sometimes occurs with other autoimmune conditions such as polymyositis, lupu... |
What is (are) Hemoglobin E disease ? | Hemoglobin E (HbE) disease is an inherited blood disorder characterized by an abnormal form of hemoglobin, called hemoglobin E. People with this condition have red blood cells that are smaller than normal and have an irregular shape. HbE disease is thought to be a benign condition. It is inherited in an autosomal reces... |
What are the symptoms of Hemoglobin E disease ? | What are the signs and symptoms of hemoglobin E disease? Affected individuals can develop mild thalassemia in the first few months of life. While mild splenomegaly and/or anemia can occur, it is generally considered a benign condition. When a person inherits a gene mutation from one of their parents, they are said to b... |
How to diagnose Hemoglobin E disease ? | How is hemoglobin E disease diagnosed? Many babies are picked up through state newborn screening programs. A diagnosis is usually made by looking at the red blood cells by doing a Mean Corpuscular Volume (MCV) test, which is commonly part of a Complete Blood Count (CBC) test. More specialized tests, such as a hemoglobi... |
What are the treatments for Hemoglobin E disease ? | How might hemoglobin E disease be treated? Treatment is usually not necessary. Folic acid supplements may be prescribed to help the body produce normal red blood cells and improve symptoms of anemia. People with hemoglobin E disease can expect to lead a normal life. |
What are the symptoms of Acrocephalopolydactylous dysplasia ? | What are the signs and symptoms of Acrocephalopolydactylous dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrocephalopolydactylous dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... |
What are the symptoms of Bork Stender Schmidt syndrome ? | What are the signs and symptoms of Bork Stender Schmidt syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bork Stender Schmidt 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 Medli... |
What are the symptoms of Osteopoikilosis and dacryocystitis ? | What are the signs and symptoms of Osteopoikilosis and dacryocystitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopoikilosis and dacryocystitis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... |
What are the symptoms of Gingival fibromatosis, 1 ? | What are the signs and symptoms of Gingival fibromatosis, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Gingival fibromatosis, 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Med... |
What are the symptoms of Carpotarsal osteochondromatosis ? | What are the signs and symptoms of Carpotarsal osteochondromatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Carpotarsal osteochondromatosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... |
What is (are) Pseudohypoparathyroidism type 1C ? | Pseudohypoparathyroidism type 1C is a genetic disorder that is very similar to hypoparathyroidism (parathyroid hormone levels are too low). However, pseudohypoparathyroidism is caused by no response to parathyroid hormone rather than having too little of the hormone itself. This causes low calcium and high phosphate le... |
What are the symptoms of Pseudohypoparathyroidism type 1C ? | What are the signs and symptoms of Pseudohypoparathyroidism type 1C? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudohypoparathyroidism type 1C. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... |
What is (are) Glutaric acidemia type III ? | Glutaric acidemia type III is a rare metabolic condition characterized by persistent, isolated accumulation or excretion of glutaric acid. No specific phenotype has been described, as symptoms vary and some individuals remain symptom-free. Unlike other types of glutaric acidemia, this type is caused by a peroxisomal ra... |
What are the symptoms of Glutaric acidemia type III ? | What are the signs and symptoms of Glutaric acidemia type III? The Human Phenotype Ontology provides the following list of signs and symptoms for Glutaric acidemia type III. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus... |
What is (are) BOD syndrome ? | BOD syndrome is a genetic condition characterized by underdeveloped pinky toenails or fingernails, normal intellect to mild intellectual disability, distinct facial features, and short stature. The cause of the condition is not known. BOD syndrome is thought to be inherited in an autosomal dominant fashion, however in ... |
What are the symptoms of BOD syndrome ? | What are the signs and symptoms of BOD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for BOD 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 ... |
What is (are) Nemaline myopathy ? | Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face, neck, and limbs. This weakness can worsen over time. ... |
What is (are) Singleton Merten syndrome ? | Singleton Merten syndrome is an extremely rare, multisystem disorder. The major characteristics are tooth abnormalities (dental dysplasia); calcifications in the aorta and certain valves of the heart (i.e., aortic and mitral valves); and progressive thinning and loss of protein of the bones (osteoporosis), especially t... |
What are the symptoms of Singleton Merten syndrome ? | What are the signs and symptoms of Singleton Merten syndrome? Singleton Merten syndrome is characterized by abnormalities of the teeth (dental dysplasia); abnormal accumulation of calcium deposits (calcifications) in the aorta and certain valves of the heart (i.e., aortic and mitral valves); and/or progressive thinning... |
How to diagnose Singleton Merten syndrome ? | How is Singleton Merten syndrome diagnosed? The diagnosis of Singleton Merten syndrome may be suspected during infancy based upon the identification of characteristic physical findings (i.e., muscle weakness, muscle atrophy, dental abnormalities, and skeletal changes). A diagnosis may be confirmed by a thorough clinica... |
What are the treatments for Singleton Merten syndrome ? | How might Singleton Merten syndrome be treated? The treatment of Singleton Merten syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, surgeons, specialists who diagnose and treat abnormalities of t... |
What are the symptoms of Keratosis palmoplantaris striata 1 ? | What are the signs and symptoms of Keratosis palmoplantaris striata 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratosis palmoplantaris striata 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... |
What is (are) Idiopathic juxtafoveal retinal telangiectasia ? | Idiopathic juxtafoveal retinal telangiectasia (IJT) refers to a group of eye conditions characterized by dilated or twisting blood vessels (telangiectasia) and defective capillaries (tiny blood vessels) near the fovea in the retina. The fovea has the biggest number of special retinal nerve cells, called cones, which en... |
What are the symptoms of Idiopathic juxtafoveal retinal telangiectasia ? | What are the signs and symptoms of idiopathic juxtafoveal retinal telangiectasia? Signs and symptoms of idiopathic juxtafoveal retinal telangiectasia may include slow loss of vision, distorted vision, trouble reading, and scotomata (a spot in the visual field in which vision is absent or deficient). |
What causes Idiopathic juxtafoveal retinal telangiectasia ? | What causes idiopathic juxtafoveal retinal telangiectasia? The exact, underlying cause of idiopathic juxtafoveal retinal telangiectasia (IJT) is not known. IJT has been reported in some siblings (including twins) and other family members of affected people. This suggests there may be a genetic component to IJT; however... |
What are the treatments for Idiopathic juxtafoveal retinal telangiectasia ? | How might idiopathic juxtafoveal retinal telangiectasia (IJT) be treated? Laser photocoagulation of areas of leakage may be helpful in treating vision loss in people with certain subtypes of IJT, such as Group 1A. A laser is a powerful beam of light which can be focused on the retina. Small "bursts" of the laser can be... |
What is (are) Bethlem myopathy ? | Bethlem myopathy is an inherited movement disorder characterized by progressive muscle weakness and joint stiffness (contractures) in the fingers, wrists, elbows, and ankles. Due to a progressive course, up to two-thirds of people with this condition require a walker or wheelchair after the age of 50. Bethlem myopathy ... |
What are the symptoms of Bethlem myopathy ? | What are the signs and symptoms of Bethlem myopathy? Bethlem myopathy mainly affects skeletal muscles, the muscles used for movement. People with this condition experience progressive muscle weakness and develop joint stiffness (contractures) in their fingers, wrists, elbows, and ankles. The features of Bethlem myopath... |
What causes Bethlem myopathy ? | What causes Bethlem myopathy? Bethlem myopathy is caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. These genes each provide instructions for making one component of a protein called type VI collagen. This protein plays an important role in muscle, particularly skeletal muscle. Type VI collagen makes up part... |
Is Bethlem myopathy inherited ? | How is Bethlem myopathy inherited? Bethlem myopathy is typically inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. IN... |
What are the treatments for Bethlem myopathy ? | How might Bethlem myopathy be treated? The treatment for Behtlem myopathy is symptomatic and supportive. This means that treatment is directed at the individual symptoms that are present in each case. There is no cure. In most cases, physical therapy, stretching exercises, splinting, and/or mobility aids are employed. ... |
What are the symptoms of Rhizomelic syndrome ? | What are the signs and symptoms of Rhizomelic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhizomelic 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 Dicti... |
What are the symptoms of Rommen Mueller Sybert syndrome ? | What are the signs and symptoms of Rommen Mueller Sybert syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rommen Mueller Sybert 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 Med... |
What is (are) Hennekam syndrome ? | Hennekam syndrome is a rare condition that affects the lymphatic system. Signs and symptoms of the condition are generally noticeable at birth and vary significantly from person to person, even within the same family. Affected people generally experience lymphangiectasia (lymphatic vessels that are abnormally expanded)... |
What are the symptoms of Hennekam syndrome ? | What are the signs and symptoms of Hennekam syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hennekam syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionar... |
What is (are) Ulcerative proctitis ? | Ulcerative proctitis is a type of ulcerative colitis that affects the rectum. The symptoms of this form of proctitis may include bleeding from the rectum, the need to go to the bathroom frequently, tenesmus, diarrhea or constipation, and rectal pain. People with ulcerative proctitis tend to have episodes when the sympt... |
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