Goldenhar syndrome (DOID:2907)
Alliance: disease page
Synonyms: Facio-auriculo-vertebral spectrum; First AND second branchial arch syndrome; First arch syndrome; HEMIFACIAL MICROSOMIA; OAV (oculoauriculovertebral) dysplasia; Otomandibular dysostosis
Alt IDs: OMIM:164210, ICD10CM:Q87.0, MESH:D006053, NCI:C84740, ORDO:374, UMLS_CUI:C0265240
Definition: 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.