Other Names for this Disease
- First and second branchial arch syndrome
The eye, cheekbone, lower jaw, facial nerves, muscles, and neck may be affected. Other findings may include hearing loss from underdevelopment of the middle ear; a small tongue; and macrostomia (large mouth). HFM is the second most common facial birth defect after clefts. 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.Hemifacial microsomia (HFM) is a condition in which part of one side of the face is underdeveloped and does not grow normally.
Last updated: 10/9/2014
- Hemifacial Microsomia. The National Craniofacial Association. 2011; http://www.faces-cranio.org/Disord/Hemi.htm.
- Craniofacial Microsomia. Seattle Children's Hospital Research Foundation. 2013; http://www.seattlechildrens.org/medical-conditions/chromosomal-genetic-conditions/hemifacial-microsomia/.
- Hemifacial microsomia (HFM). Foundation for Faces of Children. 2014; http://www.facesofchildren.org/First%20and%20Second%20Pharyngeal%20Arch%20Syndromes.
- Heike CL, Luquetti DV, and Hing AV. Craniofacial Microsomia. GeneReviews. October 9, 2014; http://www.ncbi.nlm.nih.gov/books/NBK5199/.
- 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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- 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.