Alagille Syndrome

Overview

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Is a:

Disease or Syndrome
Congenital Abnormality

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).

Synonyms:

Alagille Syndrome 1
Alagille Syndrome 2
Alagille Watson Syndrome
Alagille-Watson Syndrome
Arteriohepatic Dysplasia
Arteriohepatic Dysplasias
Cholestasis with Peripheral Pulmonary Stenosis
Dysplasia, Arteriohepatic
Dysplasias, Arteriohepatic
Hepatic Ductular Hypoplasia, Syndromatic
Syndrome, Alagille
Syndrome, Alagille-Watson

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