Goldenhar syndrome

info · Syndrome · ICD-10: Q87.0

A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.

Signs and symptoms

Micrognathia
Facial asymmetry
Hypoplasia of the maxilla
Preauricular skin tag
Limbal dermoid
Unilateral external ear deformity
Ectopic kidney
Hemivertebrae
Hydrocephalus
Block vertebrae

Also known as: Facio-auriculo-vertebral spectrum; First AND second branchial arch syndrome; First arch syndrome; HEMIFACIAL MICROSOMIA; OAV (oculoauriculovertebral) dysplasia