Alagille Syndrome

**Definition:** A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2).

**Tree numbers:** - C06.130.120.135.250.125 - C06.552.150.125 - C14.240.400.044 - C16.131.077.065 - C16.131.240.400.044 - C16.320.051

**Synonyms:** - Arteriohepatic Dysplasia (AHD) - Alagille Watson Syndrome - Alagille's Syndrome - Alagille-Watson Syndrome - Arteriohepatic Dysplasia - Cardiovertebral Syndrome - Cholestasis with Peripheral Pulmonary Stenosis - Dysplasia, Arteriohepatic - Hepatic Ductular Hypoplasia, Syndromatic - Hepatofacioneurocardiovertebral Syndrome - Watson Alagille Syndrome - Watson-Miller syndrome - Watson Miller Syndrome