Definition
Alagille syndrome is an inherited disorder characterized by bile duct paucity, congenital heart disease, and characteristic facial appearance.
Symptoms
- Bile duct deficiency
- Peripheral pulmonary stenosis
- Butterfly vertebra
- Characteristic face
Reasons
JAG1 or NOTCH2 gene mutations.
Diagnosis
Clinical criteria, genetic testing.
Treatment
Symptomatic treatment, liver transplantation.
Which Polyclinic Should You Apply To?
Gastroenterology Polyclinic
What to Do in an Emergency?
In case of symptoms of liver failure, emergency services should be consulted.
This page is for general information purposes only.