Alagille Syndrome
Synonyms
Alagille Syndrome 1
Alagille Syndrome 2
Alagille Watson Syndrome
Alagille's Syndrome
Alagille-Watson Syndrome
Alagilles Syndrome
Arteriohepatic Dysplasia
Arteriohepatic Dysplasia (AHD)
Cardiovertebral Syndrome
Cholestasis with Peripheral Pulmonary Stenosis
Ductular Hypoplasia, Hepatic
Dysplasia, Arteriohepatic
Dysplasia, Arteriohepatic (AHD)
Hepatic Ductular Hypoplasia
Hepatic Ductular Hypoplasia, Syndromatic
Hepatofacioneurocardiovertebral Syndrome
Hypoplasia, Hepatic Ductular
Paucity of Interlobular Bile Ducts
Syndrome, Alagille
Syndrome, Alagille Watson
Syndrome, Alagille's
Syndrome, Alagille-Watson
Syndrome, Cardiovertebral
Syndrome, Hepatofacioneurocardiovertebral
Syndrome, Watson Alagille
Syndrome, Watson Miller
Watson Alagille Syndrome
Watson Miller Syndrome
Watson-Miller syndrome
syndrome, Watson-Miller
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).