Alagille syndrome
Definition
Alagille syndrome is a genetic condition characterized by liver disease, typical facial features, heart murmurs or defects, vertebral changes, and eye changes as well as a variety of less frequently noted features. Alagille syndrome is also called arteriohepatic dysplasia, cholestasis with peripheral pulmonary stenosis, syndromatic hepatic ductular hypoplasia, and Alagille-Watson syndrome.
Description
Alagille syndrome is a rare condition occurring either sporadically or in an autosomal dominant pattern of inheritance. Approximately 70% of cases are caused by changes in the Jagged1
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