Goldenhar syndrome

Term ID

DOID:2907

Synonyms

• Facio-auriculo-vertebral spectrum
• First AND second branchial arch syndrome
• First arch syndrome
• HEMIFACIAL MICROSOMIA
• OAV (oculoauriculovertebral) dysplasia
• Otomandibular dysostosis

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. (3)

References

• GARD:6540
• ICD10CM:Q87.0
• MESH:D006053
• NCI:C84740
• OMIM:164210
• ORDO:374
• SNOMEDCT_US_2023_03_01:46567003
• UMLS_CUI:C0265240

Ontology

Human Disease   ( DOID:2907 )