Alagille syndrome

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Alagille syndrome is defined clinically as the combination of:

  • biliary hypoplasia
  • cardiovascular abnormalities
  • vertebral abnormalities
  • characteristic facies
  • ocular abnormalities

The degree of biliary hypoplasia is variable. Some patients have severe cholestasis, progress to cirrhosis and require liver transplantation.

Renal and vascular abnormalities can also occur.

Inter- and intrafamilial variabilities in the clinical manifestations are common.

Has an estimated frequency of one in 30,000 (1)


Last edited 05/2020