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Goldenhar Syndrome

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

Goldenhar 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.

Epidemiology1
  • Incidence is approximately 1 per 25-45,000 births.
  • Most cases are sporadic, but there are rare familial cases that exhibit autosomal dominant inheritance.
Presentation
Management

Management includes craniofacial reconstruction, and management of hearing loss and other associated abnormalities.

Prognosis

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


Document references
  1. OMIM; Hemifacial Microsomia
  2. 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]

Internet and further reading Acknowledgements EMIS is grateful to Dr Colin Tidy for writing this article. The final copy has passed scrutiny by the independent Mentor GP reviewing team. ©EMIS 2008.
DocID: 2205
Document Version: 20
DocRef: bgp1660
Last Updated: 24 Feb 2008
Review Date: 23 Feb 2010
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PS - Health and Poverty

Perhaps the biggest cause of ill health in the world is poverty. Help to Make Poverty History. For example, why not lend some of your money to disadvantaged communities to enable them to trade their way out of poverty through schemes such as Shared Interest.

See also MAKEPOVERTYHISTORY North East for details and links to campaigns against poverty.

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