What is Alagille Syndrome?

Alagille Syndrome is a rare genetic disorder that primarily affects the liver but can also impact the heart, kidneys, eyes, bones, and other parts of the body. It’s caused by mutations in specific genes—most commonly the JAG1 gene, and less frequently NOTCH2. These genes play a key role in how organs and tissues develop during early growth.

Common features of Alagille Syndrome include:
Liver problems, especially due to a reduced number of bile ducts (called bile duct paucity), which can lead to jaundice, itching, and poor growth.
Heart defects, often involving the pulmonary artery or its branches.
Distinct facial features, such as a broad forehead, deep-set eyes, and a pointed chin.
Skeletal abnormalities, like butterfly-shaped vertebrae.
Eye issues, especially a condition called posterior embryotoxon (visible on eye exams).
Kidney problems, which can range from mild to more serious.
The symptoms and severity vary widely—even among family members with the condition. Some individuals may have very mild symptoms, while others face significant health challenges early in life.

There’s currently no cure, but treatment focuses on managing symptoms and supporting affected organs. With the right care, many children with Alagille Syndrome can live fulfilling lives.