Alagille syndrome (AGS)

Alagille syndrome is a multisystemic, autosomal dominant disorder caused by a defect in the Notch signalling pathway leading to intrahepatic bile duct paucity and resulting in significant cholestasis.2

The prevalence of Alagille syndrome is approximately 1 in 70,000, although the incidence may actually be closer to 1 in 30,000.3

Features of the syndrome include characteristic facies, bile duct paucity, chronic cholestasis, and cardiac, renal, vascular, skeletal and ocular system abnormalities.3,4


1. Protocole national de diagnostic et de soins : Déficits de synthèse des acides biliaires primaires. Centre de Référence Coordonnateur de l’Atrésie des Voies Biliaires et des Cholestases Génétiques; 2019.

2. Jesina D. Alagille syndrome: an overview. Neonatal Netw 2017;36:343-7.

3. Mitchell E, Gilbert M, Loomes KM. Alagille syndrome. Clin Liver Dis 2018;22:625-41.

4. INSERM. Orphanet. European Union: The portal for rare diseases and orphan drugs. 2021 (accessed 09/2021 at