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Alagille Syndrome

Abstract

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NORD is very grateful to Ian Krantz, MD, Associate Professor of Pediatrics, Division of Human Genetics, The Children's Hospital of Philadelphia, for assistance in the preparation of this report.

Synonyms of Alagille Syndrome

  • Alagille-Watson syndrome
  • arteriohepatic dysplasia
  • cholestasis with peripheral pulmonary stenosis
  • syndromic bile duct paucity

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Alagille syndrome is a rare genetic disorder that can affect multiple organ systems of the body including the liver, heart, skeleton, eyes and kidneys. The specific symptoms and severity of Alagille syndrome can vary greatly from one person to another, even within the same family. Some individuals may have mild forms of the disorder while other may have more serious forms. Common symptoms, which often develop during the first three months of life, include blockage of the flow of bile from the liver (cholestasis), yellowing of the skin and mucous membranes (jaundice), poor weight gain and growth, severe itching (pruritis) and pale, loose stools. Additional symptoms include heart murmurs, congenital heart defects, vertebral (back bone) differences, thickening of the ring that normally lines the cornea in the eye (posterior embryotoxon) and distinctive facial features. Most cases of Alagille syndrome occur due to mutations in one copy of the JAG1 gene. A small percentage (less than 1 percent) of cases occur due to mutations of the NOTCH2 gene. These mutations are inherited as autosomal dominant traits, however in about half of cases the mutation arose as a new change ("de novo") in the individual and was not inherited from a parent.

Organizations related to Alagille Syndrome

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