Alagille syndrome

Diagnosis and Testing

How is Alagille syndrome diagnosed?

Alagille syndrome is usually diagnosed by a doctor based on the symptoms a person is having. A diagnosis of Alagille syndrome is made if a person has a low number of bile ducts in their liver as well as at least three of the following symptoms: buildup of bile in the liver, heart defect, differences in the bones (usually the bones of the spinal column), eye changes, and characteristic facial appearance. If someone in the family already was diagnosed with Alagille syndrome, other family members with at least one of these symptoms may be diagnosed with it as well.

Genetic testing is not always necessary to diagnose the condition. Genetic testing can help let other people in the family what their chance of having a child with Alagille syndrome is.

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