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Goldenhar's Syndrome

This PatientPlus article is written for healthcare professionals so the language may be more technical than the condition leaflets. You may find the abbreviations list helpful.

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

Epidemiology

  • 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.

Presentation

Management

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

Prognosis

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


Document references

  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. [abstract]
  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. [abstract]
  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. [abstract]
  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. [abstract]
  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. [abstract]

Internet and further reading

  • Tewfik TL et al; Manifestations of Craniofacial Syndromes, Medscape, Mar 2010

Acknowledgements

EMIS is grateful to Dr Hayley Willacy for writing this article and to Dr Colin Tidy and Dr Huw Thomas for earlier versions. The final copy has passed scrutiny by the independent Mentor GP reviewing team. ©EMIS 2011.
Document ID: 2205
Document Version: 22
Document Reference: bgp1660
Last Updated: 6 Apr 2011
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