Alagille syndrome
Pronunciation: ah-lah-ZHEEL
A genetic disorder affecting the liver, heart, and other organs, characterized by bile duct paucity.
Full Definition
Alagille syndrome is a rare autosomal dominant genetic condition that primarily affects the liver but also involves multiple other organ systems including the heart, kidneys, eyes, and skeleton. The hallmark feature is intrahepatic bile duct paucity, leading to cholestasis and progressive liver disease. Patients typically present with jaundice, pruritus, and growth retardation in infancy or early childhood. Additional features may include characteristic facial features, posterior embryotoxon of the eyes, cardiac abnormalities (especially peripheral pulmonary stenosis), and butterfly vertebrae. The condition is caused by mutations in the JAG1 or NOTCH2 genes.
Usage
Usage note: Capitalize both words; note the French pronunciation of Alagille.
In Context
- "The combination of bile duct paucity and pulmonary stenosis suggested Alagille syndrome." — Clinical documentation
- "Genetic counseling was recommended for the family following the Alagille syndrome diagnosis." — Discharge summary