In 1975, a pediatric hepatologist in France first described a group of children with cholestatic liver disease that also exhibited other features including heart problems and characteristic facial features. This disorder has been referred to as Alagille-Watson syndrome, syndromic bile duct paucity and arteriohepatic dysplasia, but is most commonly known as Alagille syndrome.
At The Children's Hospital of Philadelphia, our physicians and scientists have made significant contributions to understanding Alagille syndrome. In 1997, we identified the gene that causes Alagille syndrome, which has revolutionized our ability to provide accurate diagnoses and counseling for families. Since our initial discovery, we have studied more than 200 patients to learn what types of gene changes lead to the disease and how this gene works. Recently we have identified a second gene that causes Alagille syndrome in a few cases.
If your child has been diagnosed with Alagille syndrome, you probably have countless questions about what it is, what causes it, what to expect and how your child's symptoms will be treated. We've tried to answer many of those questions here, but please talk to your child's doctor or other healthcare professional — and feel free to contact us — if you need more information.
Reviewed by: Binita M. Kamath, MD
Date: January 2009