Definitions for alagille syndrome
U.S. National Library of Medicine
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).
Use the citation below to add this definition to your bibliography:
"alagille syndrome." Definitions.net. STANDS4 LLC, 2013. Web. 23 May 2013. <http://www.definitions.net/definition/alagille syndrome>.