Arteriohepatic Dysplasia (Alagille Syndrome), Retinal Degeneration

Synonyms

Alagille-Watson syndrome (AWS); Arteriohepatic dysplasia (AHD); Cholestasis with peripheral pulmonary stenosis; Syndromatic hepatic ductular hypoplasia

Definition

Alagille syndrome (ALGS; OMIM #118450) is an autosomal dominant inherited multisystem disease. The syndrome affects primarily the liver, heart, eyes, face, and skeleton. The penetrance is highly variable within and between different affected families. The syndrome was first described by Alagille et al. in 1969, and additional cases were reported by Watson and Miller in 1973, and again by Alagille et al. in 1975, leading to the establishment of diagnostic criteria. Prevalence of ALGS is estimated to be in the range of 1:30,000–1:70,000 live births taking into account the variability and the low penetrance of the disease. The most common characteristic manifestations of the disease are juvenile cholestasis combined with bile duct paucity on liver biopsy; congenital cardiac defects, primarily involving the pulmonary...