Alagille syndrome

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.1
The prevalence of Alagille syndrome is approximately 1 in 70,000, although the incidence may actually be closer to 1 in 30,000.2Features of the syndrome include characteristic facies, bile duct paucity, chronic cholestasis, and cardiac, renal, vascular, skeletal and ocular system abnormalities.2,3
Diagnosis

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

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

3. Orphanet: The portal for rare diseases and orphan drugs. 2020. at https://www.orpha.net/consor/cgi-bin/Disease.php?lng=EN.)

4. 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.