Also known as arteriohepatic dysplasia, this is a genetic disorder characterized by jaundice in the newborn period, liver disease with cholestasis, peripheral pulmonic stenosis and unusual face. Children with Alagille syndrome usually present with jaundice (yellowing of the skin and whites of the eyes) in the newborn period. Cholestasis (stagnant f [..]

A rare disorder in which there are defects in the small tubes that carry bile (fluid that helps digest fat) out of the liver. These small tubes may be narrow or have an abnormal shape, or there may be [..]

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 F [..]

An autosomal dominant MUTATION involving CHROMOSOME 20. It is characterized by the almost normal LIVER that has few or no intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC). Other extrahepatic malform [..]

<syndrome> Hypoplasia of the hepatic ducts, congenital pulmonary artery stenosis, facial abnormalities, and other congenital malformations, particularly skeletal. It is often presented as jaundice during the neonatal period. It is an autosomal recessive disease generally manifesting during childhood. "arteriohepatic" refers to the p [..]

A rare inherited liver disorder seen in infants and young children. The disease is characterized by a buildup of bile in the liver due to a deficiency or absence of normal bile ducts inside the liver [..]