Table 2.

Alagille Syndrome: Frequency of Select Features

Feature% of Persons w/FeatureComment
Hepatic abnormality 95%Bile duct paucity; conjugated hyperbilirubinemia; chronic cholestasis characterized by pruritus, xanthomas, & fat-soluble vitamin deficiencies; end-stage liver disease
Cardiac manifestations 90%-97%Most commonly including peripheral pulmonary stenosis & tetralogy of Fallot
Posterior embryotoxon 78%-89%
Vertebral anomalies 33%-93%
Characteristic facies 20%-90%
Renal manifestations 39%Renal malformations & kidney disease
Vascular 15%-30%Intracranial bleeds, systemic vascular anomalies, & other, including moyamoya disease

From: Alagille Syndrome

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