Goldenhar syndrome

Also known as: Oculo-auriculo-vertebral spectrum

Hemifacial microsomia with ear, eye and vertebral anomalies.

Medical specialty: Pediatrics
Subspecialty: Pediatrics / Pediatric genetics
Sex & age distribution: Male: affected, slight male predominance; Female: affected; Children: yes, congenital
Gene(s) involved: None recorded

Etiology & mechanism

First and second branchial arch developmental disruption.

Gene(s) involved (0)

No gene recorded.

Symptoms & signs (5)

ear anomaliesepibulbar dermoidhearing losshemifacial microsomiavertebral anomalies

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