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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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Cause


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What is the cause of hemifacial microsomia?

The cause of this condition is still unknown; however, most agree that something occurred in the early stages of development such as a disturbance of the blood supply to the first and second branchial arches in the first 6 to 8 weeks of pregnancy.[1] Although most cases are sporadic and a few families consistent with autosomal recessive inheritance have been reported, other families clearly support autosomal dominant inheritance.[2]
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. Murray Je, Kaban LB & Mulliken JB. Analysis and treatment of hemifacial microsomia. Plast Reconst Surg. 1984; http://www.ncbi.nlm.nih.gov/pubmed/6463144. Accessed 8/8/2013.