Alagille syndrome (also known as arteriohepatic dysplasia) is a congenital genetic multisystem disorder.

Clinical presentation

Infants typically present with symptoms relating to the liver where it is one of the most common causes of hereditary cholestasis.


Alagille syndrome is inherited in an autosomal fashion with a mutation of the JAG1 (90%) and NOTCH2 (1-2%) genes, located on the short arm of chromosome 20. Microdeletion of 20p12 is seen in ~7.5% of patients .


The spectrum of disease in Alagille syndrome is diverse:

History and etymology

Named after Daniel Alagille, a French pediatrician (1925-2005) who first described it .

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