[Alagille Syndrome].

Abstract

Alagille syndrome is a rare disorder with low physician awareness. It affects multiple organs and thus patient management involves several medical specialties. It is an autosomal dominant disorder with significant intrafamilial variability. The most frequent clinical manifestations are neonatal jaundice, chronic cholestasis as well as cardiac, ocular and skeletal malformations associated with characteristic facial features. Inherited mutations affect the Notch pathway. Although the molecular basis of Alagille syndrome is well defined, no specific targeted therapy exists.

• Authors: Jeanine Wakim El-Khoury, Jean-Pierre Venetz, Tobias Rutz, Amedeo Sciarra, Sheila Unger, Christine Sempoux, Darius Moradpour, Montserrat Fraga
• Journal: Revue medicale suisse (Rev Med Suisse) Vol. 15 Issue 660 Pg. 1506-1510 (Aug 28 2019) ISSN: 1660-9379 [Print] Switzerland
• Vernacular Title: Syndrome d’Alagille.
• PMID: 31496175 (Publication Type: Journal Article, Review)

Topics

• Alagille Syndrome (genetics, pathology)
• Humans