Alagille syndrome

Also known as: Arteriohepatic dysplasia

Multisystem syndrome with cholestasis, pulmonary artery stenosis and butterfly vertebrae.

Medical specialty: Cardiology
Subspecialty: Cardiology / Genetic cardiology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infancy
Gene(s) involved: JAG1, NOTCH2

Etiology & mechanism

Notch signaling pathway defects.

Gene(s) involved (2)

JAG1NOTCH2

Symptoms & signs (9)

butterfly vertebraecholestasisjaundiceperipheral pulmonary stenosisposterior embryotoxonpruritustetralogy of fallottriangular faciesxanthomas

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.