Children's Hospital Colorado

Winter Weather Alert

Children's Hospital Colorado is closely monitoring the winter storm that is impacting most of Colorado. Community safety is our top priority, and we will keep you updated as new information becomes available. Visit our weather page for more information on the latest closures and modified hours.

Pediatric Liver Center

Alagille Syndrome

We specialize in the big things, the small things and everything in between.

Best Children's Hospital by U.S. News & World Report Gastroenterology 2021-2 Badge

Get Care

Would you like to learn more about us?
checked box icon Pediatric Liver Center
Do you have questions about your child’s condition?
Call
Want a second opinion?
Two checked boxes icon Get started

What is Alagille syndrome?

Alagille syndrome is a genetic disorder, meaning that it is caused by a missing or mutated piece of deoxyribonucleic acid (DNA). DNA is the substance that makes up our genetic code, which provides the body with a blueprint for how to develop and function.

Specifically, Alagille syndrome is caused by the deletion or mutation of the JAG1 or NOTCH2 gene, which results in the body forming an insufficient number of bile ducts in the liver. Bile is the substance the body makes to help remove waste; when the body does not have enough bile ducts, bile can back up in the liver, causing liver disease and other complications.

In addition to a low number of bile ducts, we also associate Alagille syndrome with these conditions:

  • Unique facial structure
  • Heart abnormalities
  • Butterfly-shaped vertebrae
  • Kidney abnormalities
  • Blood vessel abnormalities
  • Posterior embryotoxon (an abnormally thick line bordering the eye’s iris)
  • Short stature

Who gets Alagille syndrome?

About 40% of newborns with Alagille syndrome have inherited it from a parent, while about 60% are born with a gene mutation that was not passed down from either parent. Alagille syndrome affects boys and girls of all races the same. It occurs in about one out of every 30,000 live births.

Next steps

Compassionate care, wherever you are

We’re here when you need us. Telehealth appointments are available across every specialty, so you can get the high-quality care we’ve always offered from the comfort, privacy and convenience of home.

See if telehealth is right for you