Rarediseases.info.nih.gov

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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URL: https://rarediseases.info.nih.gov/diseases/5683/smith-lemli-opitz-syndrome/

Rubinstein-Taybi syndrome

WEBSummary. Rubinstein-Taybi syndrome (RTS) is a syndrome characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual …

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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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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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Smith-Magenis syndrome

WEBThese genetic changes may occur randomly, or may be inherited from a parent in an autosomal dominant manner. Smith-Magenis syndrome (SMS) is a developmental …

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Rh deficiency syndrome

WEBRh deficiency syndrome is inherited in an autosomal recessive manner. Summary. The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people …

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Wolf-Hirschhorn syndrome

WEBDisease at a Glance. Summary. Wolf-Hirschhorn syndrome (WHS) is a genetic disorder that affects many parts of the body. The major features include a characteristic facial …

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Wiedemann-Steiner syndrome

WEBDiagnosis is based on the symptoms and clinical exam, and it is confirmed by the results of genetic testing. Wiedemann-Steiner syndrome (WSS) includes distinctive facial features, …

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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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About the Disease

WEBSummary. Hirschsprung disease (HSCR) is a disease of the large intestine or colon. People with this disease do not have the nerve cells in the intestine required to pass stools from …

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