Autosomal dominant mutation involving chromosome 20; characterized by the almost normal liver that has few or no intrahepatic bile ducts; other extrahepatic malformations include those in the heart, the eyes, the vertebral column, and the facies; major clinical features include jaundice, and congenital heart disease with peripheral pulmonary stenosis.

Alagille syndrome (ALGS) is a genetic disorder that affects primarily the liver and the heart. Problems associated with the disorder generally become evident in infancy or early childhood...