Alagille Syndrome

Excerpt

Alagille syndrome (ALGS) is a multisystem autosomal dominant disorder with a wide variety of clinical manifestations. It is also known as arteriohepatic dysplasia, Alagille-Watson syndrome, Watson-Miller syndrome, or syndromic bile duct paucity. The clinical manifestations are variable, even within the same family, and commonly include hepatic (cholestasis, characterized by bile duct paucity on liver biopsy), cardiac (primarily involving the pulmonary arteries), renal skeletal (butterfly vertebrae), ophthalmologic (posterior embryotoxon), and facial abnormalities. Alagille syndrome can range from a subclinical presentation to a life-threatening condition, with a mortality rate up to 10%.