Alagille syndrome

Last revised by Grace Carpenter on 14 May 2023

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

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 6.

The spectrum of disease in Alagille syndrome is diverse:

Named after Daniel Alagille, a French pediatrician (1925-2005) who first described it 9.

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Cases and figures

  • Case 1: with pulmonary hypertension and pulmonary arterial stenosis
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  • Case 2: with pulmonary stenosis
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  • Case 3: echogenic kidney
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