Rarediseases.info.nih.gov

Ehlers-Danlos syndrome

WEBSummary. Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders caused by abnormalities in the structure, production, and/or processing of …

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URL: https://rarediseases.info.nih.gov/diseases/6322/ehlers-danlos-syndrome/

Osteogenesis imperfecta

WEBDiagnosis is based on the symptoms, clinical exam, imaging studies, and may be confirmed by the results of genetic testing. Osteogenesis imperfecta (OI) is a group of genetic …

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Beta-thalassemia

WEBIn this case, a person has only one mutated HBB gene, but has signs and symptoms of Beta-thalassemia major or Beta-thalassemia intermedia. Summary. Beta-thalassemia is …

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Klebsiella infection

WEBKlebsiella is a type of bacteria commonly found in nature. In humans, the bacteria are often present in parts of the digestive tract where they do not generally cause problems. In the …

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Ehlers-Danlos syndrome

WEBInformation Center. Finding the right health care provider or getting the correct diagnosis may prove challenging. GARD can help. Contact a GARD Information Specialist to …

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Alpha-thalassemia

WEBThe inheritance is complex, and can be read about here. Alpha-thalassemia is a blood disorder that reduces the body's production of hemoglobin. Affected people have …

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Smith-Lemli-Opitz syndrome

WEBThis condition is diagnosed based on the features and laboratory and genetic testing. Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic condition affecting multiple body …

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Birt-Hogg-Dubé syndrome

WEBBHDS is caused by genetic changes in the FLCN gene. The condition is inherited in an autosomal dominant fashion. Birt-Hogg-Dube syndrome (BHDS) is a rare, complex, …

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Amelogenesis imperfecta

WEBAmelogenesis imperfecta (AI) (amelogenesis - enamel formation; imperfecta - imperfect) is a disorder that affects the structure and appearance of the enamel of the teeth. This …

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Bardet-Biedl syndrome

WEBBardet-Biedl syndrome (BBS) is an inherited condition that affects many parts of the body. People with this syndrome have progressive visual impairment due to cone-rod …

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Ornithine transcarbamylase deficiency

WEBOrnithine transcarbamylase (OTC) deficiency is a genetic disease that causes too much ammonia to accumulate in the blood (hyperammonemia). Ammonia is toxic when levels …

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Maple syrup urine disease

WEBMSUD is often diagnosed based on the results of a newborn screening test. Summary. Maple syrup urine disease (MSUD) occurs when the body is unable to breakdown …

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