Goldenhar's Syndrome

PatientPlus articles are written by UK doctors and are based on research evidence, UK and European Guidelines. They are designed for health professionals to use, so you may find the language more technical than the condition leaflets.

Synonyms: hemifacial microsomia, oculo-auriculo-vertebral dysplasia, oculo-auriculo-vertebral spectrum

Goldenhar's syndrome is a birth defect resulting from the maldevelopment of the first two branchial arches, with incomplete development of the ear, nose, soft palate, lip and mandible. The phenotype is highly variable.

The classic triad is mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformation, and vertebral anomalies.[1]

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  • Incidence is approximately 1 per 25-45,000 births.[2]
  • Most cases are sporadic, but there are rare familial cases that exhibit autosomal dominant inheritance.

Surgical management involves craniofacial reconstruction.
Supportive multidisciplinary management should be arranged, including departments such as paediatric cardiology, audiology, ophthalmology and plastic surgery.

Prognosis is variable and depends on the presence and severity of associated cardiovascular, neurological and other complications.

Further reading & references

  • Tewfik TL et al; Manifestations of Craniofacial Syndromes, Medscape, Mar 2010
  1. Martelli-Junior H, Miranda RT, Fernandes CM, et al; Goldenhar syndrome: clinical features with orofacial emphasis. J Appl Oral Sci. 2010 Dec;18(6):646-9.
  2. Hemifacial Microsomia, Online Mendelian Inheritance in Man (OMIM)
  3. Engiz O, Balci S, Unsal M, et al; 31 cases with oculoauriculovertebral dysplasia (Goldenhar syndrome): clinical, Genet Couns. 2007;18(3):277-88.
  4. Morrison PJ, Mulholland HC, Craig BG, et al; Cardiovascular abnormalities in the oculo-auriculo-vertebral spectrum (Goldenhar syndrome). Am J Med Genet. 1992 Nov 1;44(4):425-8.
  5. Rosa RF, Graziadio C, Lenhardt R, et al; Central nervous system abnormalities in patients with oculo-auriculo-vertebral Arq Neuropsiquiatr. 2010 Feb;68(1):98-102.
  6. Touliatou V, Fryssira H, Mavrou A, et al; Clinical manifestations in 17 Greek patients with Goldenhar syndrome. Genet Couns. 2006;17(3):359-70.

Disclaimer: This article is for information only and should not be used for the diagnosis or treatment of medical conditions. EMIS has used all reasonable care in compiling the information but make no warranty as to its accuracy. Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. For details see our conditions.

Original Author:
Dr Colin Tidy, Dr Huw Thomas
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Document ID:
2205 (v22)
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