Alagille Syndrome
Cancer Terms ->
Diseases Disorders and Findings ->
Diseases and Disorders ->
Syndrome -> Alagille Syndrome
Alagille Syndrome Definition
An autosomal dominant genetic syndrome caused by mutations in the JAG1 gene. It is characterized by cholestatic jaundice in infancy, hepatosplenomegaly, distinctive facial features (prominent forehead, elongated nose, and pointed chin), cardiac murmurs, bone malformations, and sometimes mild mental retardation.
Alagille Syndrome Synonyms
Alagille Syndrome
Terms in Alagille Syndrome category
Copyright © Cancer Terms 2014 All rights reserved. | Terms of Use | Low Carb Foods
No reproduction or republication permitted.