Alagille syndrome is defined clinically as the combination of:
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)
Reference:
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