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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Hemifacial microsomia


Other Names for this Disease
  • Craniofacial microsomia
  • First and second branchial arch syndrome
  • Oculoauriculovertebral dysplasia
  • Oculoauriculovertebral spectrum
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Overview


Hemifacial microsomia is a condition in which the lower half of one side of the face is underdeveloped and does not grow normally. The eye, cheek and neck may also be affected.[1][2] This is the second most common facial birth defect after clefts.[1] It is sometimes also referred to as first and second brachial arch syndrome, oral-mandibular-auricular syndrome, lateral facial dysplasia, or otomandibular dysostosis. The syndrome varies in severity, but always includes the maldevelopment of the ear and the mandible. Goldenhar syndrome is one type of hemifacial microsomia and mainly affects the development of the eye, ear and spine.[3]
Last updated: 8/8/2013

References

  1. Hemifacial Microsomia. The National Craniofacial Association. 2011; http://www.faces-cranio.org/Disord/Hemi.htm. Accessed 8/8/2013.
  2. Craniofacial Microsomia. Seattle Children's Hospital Research Foundation. 2013; http://www.seattlechildrens.org/medical-conditions/chromosomal-genetic-conditions/hemifacial-microsomia/. Accessed 8/8/2013.
  3. Lacombe D. Orphanet. Goldenhar syndrome. 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=374. Accessed 8/8/2013.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Hemifacial microsomia. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.