Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Goldenhar syndrome

Disease definition

Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies.


Classification level: Disorder
  • Synonym(s):
    • Expanded spectrum hemifacial microsomia
    • Facioauriculovertebral dysplasia
    • OAV dysplasia
    • OAVS
    • Oculoauriculovertebral dysplasia
    • Oculoauriculovertebral syndrome
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.0
  • OMIM: 164210
  • UMLS: C0265240  C0432130
  • MeSH: D006053
  • GARD: 6540
  • MedDRA: -

Detailed information

Article for general public


The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.