Pediatric Alagille Syndrome

Alagille syndrome is a genetic disorder caused by problems with the bile ducts. It can affect your child’s liver, heart, kidneys and more.

What is Pediatric Alagille Syndrome?

Bile ducts carry an important fluid called bile from the liver to the gallbladder and small intestine to help your child’s body digest fat. Alagille syndrome is a genetic disorder that causes the bile ducts to be narrow, deformed or fewer in number, making it hard for your child’s body to carry the bile as needed. This causes bile to build up in your child’s liver, which can lead to liver damage and problems with the heart and kidneys.

Some serious heart abnormalities caused by Alagille syndrome include:

  • Problems with blood flow from the heart to the lungs
  • A hole between the two lower chambers of the heart
  • Heart murmur (an unusual or extra heartbeat)
  • Other problems that affect the heart valves 

What are the signs and symptoms of Pediatric Alagille Syndrome?

Your child may have only one, a few, or all of the symptoms and signs of Alagille syndrome. These symptoms may be mild or severe and can include:

What are the causes of Pediatric Alagille Syndrome?

Alagille syndrome is caused by a genetic defect that happens when there is a mutation (permanent change) in the DNA sequence of your child’s gene. This defect may be inherited from one parent or it may happen spontaneously, even if neither of the child’s parents carry the gene defect.

Pediatric Alagille Syndrome Doctors and Providers