Other Names for this Disease
- Goldenhar syndrome
- Facioauriculovertebral sequence
- FAv sequence
- Expanded spectrum of hemifacial microsomia
- Facioauriculovertebral dysplasia
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microtia) or totally absent ear (anotia), noncancerous (benign) growths of the eye (ocular dermoid cysts), and spinal abnormalities. Goldenhar disease may also affect the heart, lungs, kidneys, and central nervous system. It is due to problems that occur when the fetus is forming within the womb of the mother, in structures known as the "first and second brachial arch". These structures will develop to form the neck and the head. The cause is still unknown. Goldenhar syndrome 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 is age-dependent, with interventions at appropriate stages of skull and face growth and development.Goldenhar disease is a condition that is present at birth and mainly affects the development of the eye, ear and spine. The main characteristics are facial asymmetry (one side of the face is different from the other), a partially formed ear (
Last updated: 4/23/2016
- Hemifacial Microsomia. Online Mendelian Inheritance in Man (OMIM). October 27, 2014; http://omim.org/entry/164210.
- Rollnick BR & Kaye CI. Oculo-auriculo-vertebral anomaly. On: Buyse M.D. Birth Defects Encyclopedia. Center for Birth Defects Information Services. Dover, MA: 1990; 1272-1274.
- Wang W. et al. Hemifacial Microsomia. Online Mendelian Inheritance in Man. August 31, 2010; http://www.ncbi.nlm.nih.gov/omim/164210. Accessed 11/3/2010.
- Heike CL, Luquetti DV, and Hing AV. Craniofacial Microsomia. GeneReviews. October 9, 2014; http://www.ncbi.nlm.nih.gov/books/NBK5199/.
- Síndrome de Goldenhar. Orphanet. Febrero 2005; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=ES&data_id=499.
- FACES: The National Craniofacial Association offers an information page on Goldenhar disease. Please click on the link to access this resource.
- 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.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Goldenhar disease. Click on the link to view a sample search on this topic.