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Alagille syndrome

Other Names for this Disease
  • Alagille-Watson syndrome
  • Arteriohepatic dysplasia
  • Cardiovertebral syndrome
  • Cholestasis with peripheral pulmonary stenosis
  • Hepatic ductular hypoplasia
More Names
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What are the symptoms of Alagille syndrome?

Alagille syndrome is a complex multisystem disorder involving the liver, heart, eyes, face, and skeleton.[1] Symptoms typically present in infancy or early childhood.[2] The severity of the disorder varies among affected individuals, even within the same family.[1][2] Symptoms range from so mild as to go unnoticed to severe enough to require heart and/or liver transplants.[2]

One of the major features of Alagille syndrome is liver damage caused by abnormalities in the bile ducts. These ducts carry bile (which helps to digest fats) from the liver to the gallbladder and small intestine. In Alagille syndrome, the bile ducts may be narrow, malformed, and reduced in number. This results in a build-up of  bile causing scarring that prevents the liver from working properly. This may lead to jaundice, itchy skin, and deposits of cholesterol in the skin (xanthomas).[2]

Alagille syndrome is also associated with several heart problems, including impaired blood flow from the heart into the lungs (pulmonic stenosis). Other heart-related problems include a hole between the two lower chambers of the heart (ventricular septal defect) and a combination of heart defects called tetralogy of Fallot.[2]

People with Alagille syndrome may also have distinctive facial features (including a broad, prominent forehead; deep-set eyes; and a small, pointed chin), problems with the blood vessels within the brain and spinal cord (central nervous system) and the kidneys, and an unusual butterfly shape of the bones of the spinal column (vertebrae).[2]

Detailed information about the symptoms associated with Allagille syndrome can be accessed through the National Digestive Diseases Information Clearinghouse (NDDIC) and GeneReviews.

Last updated: 11/1/2012

  1. Spinner NB, Hitchinson AL, Krantz ID, Kamath BM. Alagille Syndrome. GeneReviews. July 2010; Accessed 11/1/2012.
  2. Alagille syndrome. Genetics Home Reference (GHR). 2010; Accessed 11/1/2012.