Hypoplasi i gallgångarna, medfödd pulmonalisstenos, ansiktsabnormaliteter och andra medfödda missbildningar, särskilt av skelettet. Detta är en autosomal recessiv sjukdom som ofta visar sig som gulsot hos nyfödda och som manifesterar sig under barndomen.
A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2).
Arteriohepatisk dysplasi
Syndrome, Alagille — Alagille's Syndrome — Alagilles Syndrome — Syndrome, Alagille's — Alagille-Watson Syndrome — Syndrome, Alagille-Watson — Arteriohepatic Dysplasia — Cardiovertebral Syndrome — Syndrome, Cardiovertebral — Arteriohepatic Dysplasia (AHD) — Dysplasia, Arteriohepatic (AHD) — Dysplasia, Arteriohepatic — Hepatic Ductular Hypoplasia, Syndromatic — Hepatofacioneurocardiovertebral Syndrome — Syndrome, Hepatofacioneurocardiovertebral — Watson Alagille Syndrome — Syndrome, Watson Alagille — Watson Miller Syndrome — Syndrome, Watson Miller — Watson-Miller syndrome — syndrome, Watson-Miller — Alagille Watson Syndrome — Syndrome, Alagille Watson — Cholestasis with Peripheral Pulmonary Stenosis — Alagille Syndrome 2 — Paucity of Interlobular Bile Ducts — Hepatic Ductular Hypoplasia — Ductular Hypoplasia, Hepatic — Hypoplasia, Hepatic Ductular — Alagille Syndrome 1