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