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Genetic and Rare Diseases Information Center (GARD)

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Hemifacial myohyperplasia

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Other Names for this Disease

  • Hypertrophy and asymmetry of the facial muscles
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Overview

Hemifacial myohyperplasia (HMH) is a developmental disorder that frequently affects the right side of the face and is commonly seen in males. On the affected side of the face, there are usually enlarged tissues that lead to an abnormal jaw shape.[1]  Other features associated with HMH include enlargement of the brain, epilepsy, strabismus, genitourinary system disorders, intellectual disability, and dilation of the pupil on the affected side .[1][2] Asymmetry of the face is more noticeable with age and remains until the end of adolescence when the asymmetry stabilizes.[1][3] The cause of HMH is unknown; but theories suggest an imbalance in the endocrine system, neuronal abnormalitieschromosomal abnormalities, random events in twinning and fetal development, and vascular or lymphatic abnormalities.[2]
Last updated: 7/14/2011

References

  1. Pereira-Perdomo DF, Vélez-Forero J, Prada-Madrid R. Hemifacial myohyperplasia sequence. Am J Med Genet A. July 2010; http://www.ncbi.nlm.nih.gov/pubmed/20583183. Accessed 7/13/2011.
  2. Lee S, Sze R, Murakami C, Gruss J, Cunningham M. Hemifacial myohyperplasia: description of a new syndrome. Am J Med Genet. November 2001; http://www.ncbi.nlm.nih.gov/pubmed/11746014. Accessed 7/13/2011.
  3. Miranda RT, Barros LM, Santos LA, Bonan PR, Martelli H Jr. Clinical and imaging features in a patient with hemifacial hyperplasia. J Oral Sci. 2010; http://www.jstage.jst.go.jp/article/josnusd/52/3/509/_pdf. Accessed 7/13/2011.
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In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a 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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hemifacial myohyperplasia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Hypertrophy and asymmetry of the facial muscles
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.