Alagille syndrome


What is Alagille syndrome?

Alagille syndrome is a genetic condition that affects many parts of the body including the liver and heart. In most individuals with this condition, liver problems are the predominant feature of the disease. They may also have issues with their heart, skeleton (bones), eyes, and facial features that are similar to other people who have this condition. The symptoms of Alagille syndrome can be very different in different people, even if they are in the same family. The most common symptoms are problems with their liver-caused by abnormalities in the bile duct, differences in the structure of the heart, common facial features, and vertebrae (bones of the spine) shaped like butterflies. It is inherited in an autosomal dominant manner, meaning that having a change in one copy of a gene involved in Alagille syndrome is enough to cause the condition. The genes involved in Alagille syndrome are JAG1 and NOTCH2. Alagille syndrome can be inherited from a parent who has the syndrome or can be new in a child.

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Are there other names for Alagille syndrome?

How common is Alagille syndrome?

Is there a usual abbreviation for Alagille syndrome?

Are there other names for Alagille syndrome?

While "Alagille syndrome" is the most common name for this condition, there are many other names that people use when talking about Alagille syndrome. These names include:

  • Alagille's syndrome
  • Alagille-Watson syndrome
  • Arteriohepatic dysplasia
  • Cardiovertebral syndrome
  • Cholestasis with peripheral pulmonary stenosis
  • Hepatic ductular hypoplasia
  • Hepatofacioneurocardiovertebral syndrome
  • Paucity of interlobular bile ducts
  • Syndromic bile duct paucity
  • Syndromic biliary hypoplasia
  • Watson-Miller syndrome
How common is Alagille syndrome?

It was first though that about 1 in 70,000 babies are born per year with Alagille syndrome. However, there might actually be more people with Alagille syndrome who have the condition, but are not diagnosed, if their symptoms are very mild. Alagille syndrome may occur in as many as 1 in 30,000 babies.

Is there a usual abbreviation for Alagille syndrome?

Alagille syndrome can be abbreviated to ALGS.


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