Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Hemifacial microsomia


Other Names for this Disease
  • First and second branchial arch syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Hemifacial microsomia (HFM) is a condition in which part of one side of the face is underdeveloped and does not grow normally. The eye, cheekbone, lower jaw, facial nerves, muscles, and neck may be affected.[1][2][3] Other findings may include hearing loss from underdevelopment of the middle ear; a small tongue; and macrostomia (large mouth).[3] HFM is the second most common facial birth defect after clefts.[1] The cause of HFM in most cases is unknown. It usually occurs in people with no family history of HFM, but it is inherited in some cases. HFM is part of a group of conditions known as "craniofacial microsomia". It is not known whether the conditions included in the group really are different conditions or part of the same problem with different degrees of severity. Treatment depends on age and the specific features and symptoms in each person.[4]
Last updated: 10/9/2014

References

  1. Hemifacial Microsomia. The National Craniofacial Association. 2011; http://www.faces-cranio.org/Disord/Hemi.htm.
  2. Craniofacial Microsomia. Seattle Children's Hospital Research Foundation. 2013; http://www.seattlechildrens.org/medical-conditions/chromosomal-genetic-conditions/hemifacial-microsomia/.
  3. Hemifacial microsomia (HFM). Foundation for Faces of Children. 2014; http://www.facesofchildren.org/First%20and%20Second%20Pharyngeal%20Arch%20Syndromes.
  4. Heike CL, Luquetti DV, and Hing AV. Craniofacial Microsomia. GeneReviews. October 9, 2014; http://www.ncbi.nlm.nih.gov/books/NBK5199/.
GARD Video Tutorials
GARD Video Tutorials
Learn how to find information on treatment, research, specialists, and more.
Your Questions Answered
Your Questions Answered
View questions about this condition answered by GARD Information Specialists. You can also submit a new question.

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 Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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.
Other Names for this Disease
  • First and second branchial arch syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.