Alagille Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant genetic syndrome caused by mutations in the JAG1 gene. It is characterized by cholestatic jaundice in infancy, hepatosplenomegaly, distinctive facial features (prominent forehead, elongated nose, and pointed chin), cardiac murmurs, bone malformations, and sometimes mild mental retardation.

**Synonyms:** - Arteriohepatic Dysplasia - Arteriohepatic Dysplasia