The Application of Clinical Genetics (Jun 2016)
Alagille syndrome: clinical perspectives
Abstract
Maha Saleh,1 Binita M Kamath,2 David Chitayat1,3 1Division of Clinical and Metabolic Genetics, 2Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, The Hospital for Sick Children, 3Department of Obstetrics and Gynecology, Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada Abstract: Alagille syndrome is an autosomal dominant, complex multisystem disorder characterized by the presence of three out of five major clinical criteria: cholestasis with bile duct paucity on liver biopsy, congenital cardiac defects (with particular involvement of the pulmonary arteries), posterior embryotoxon in the eye, characteristic facial features, and butterfly vertebrae. Renal and vascular abnormalities can also occur. Inter- and intrafamilial variabilities in the clinical manifestations are common. We reviewed the clinical features and management as well as the molecular basis of Alagille syndrome. Keywords: Alagille syndrome, ALGS, genetics, liver
