Alagille syndrome

A new disease profile is added to our database – Alagille syndrome. Alagille syndrome (AGS) is a complex multisystem disorder with major clinical manifestations being cholestasis, characterized by bile duct paucity on liver biopsy; congenital cardiac defects; posterior embryotoxon in the eye; typical facial features; and butterfly vertebrae. About 94% of the cases are caused by mutations in JAG1 gene. Mutations in NOTCH2 are associated with some instances of Alagille syndrome. The prevalence of Alagille syndrome has been estimated to be 1 in 70 000 live births. It is a multisystem disorder with highly variable presentation, even within patients of one family. To receive a full description of this rare disease absolutely free of charge, please click here and send us a request. The profile was written by our consultant in pediatrics – Prof. Ivan Ivanov, MD, PhD.