What is it?

Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body. Alagille syndrome is characterized by narrow, and malformed bile ducts, which cause accumulation of bile fluids and lead to liver damage in childhood. Heart abnormalities may include pulmonic stenosis, and ventricular septal defect. Also, babies that are born with this condition may have special facial features such as broad and prominent forehead, deep-set eyes and a small pointed chin. The severity of the disorder changes and symptoms may range from mild to severe. The condition is caused due to a mutation in the JAD1 gene or less commonly in other genes.

4 Alikes with Congenital malformations of liver

Learn from others
who are experiencing
Congenital malformations of liver.

Additional names

This group contains additional names:
- Alagille's syndrome

Signs & symptoms

Symptoms may include yellow skin, yellowing of the eyes, itching skin, delayed growth, heart murmuts, changes in blood vessels, facial characteristics, spinal growth changes, kidney disease, enlarged spleen, white ring in the eyes, and deposits of cholesterol in the skin.


Diagnosis is based upon findings from medical history and physical examination. Further evaluation may include blood test, imaging test, abdominal ultrasound, liver biopsy and genetic testing.


Treatment depends on the symptoms and their severity but may include medicine to increase bile flow out of the liver, itch relievers, vitamin supplements, high-calorie food supplements, surgery and liver transplant.

☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.

Learn more about our editorial process for content accuracy.

Alike Wisdom

Instantly get answers to medical questions with our AI, built from the collective wisdom of our community facing similar experiences

Thank you! Your submission has been received!

Find people who are
experiencing a similar
medical reality

100% Free