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Diseases

Genetic and Rare Diseases Information Center (GARD)

Goldenhar disease


Other Names for this Disease
  • Goldenhar syndrome
  • Facioauriculovertebral sequence
  • FAv sequence
  • Expanded spectrum of hemifacial microsomia
  • Facioauriculovertebral dysplasia
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Overview

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 (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.[1][2] 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.[3][1][2][4][5] 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.[4]
Last updated: 4/23/2016

References

  1. Hemifacial Microsomia. Online Mendelian Inheritance in Man (OMIM). October 27, 2014; http://omim.org/entry/164210.
  2. 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.
  3. 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.
  4. Heike CL, Luquetti DV, and Hing AV. Craniofacial Microsomia. GeneReviews. October 9, 2014; http://www.ncbi.nlm.nih.gov/books/NBK5199/.
  5. Síndrome de Goldenhar. Orphanet. Febrero 2005; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=ES&data_id=499.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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.
Other Names for this Disease
  • Goldenhar syndrome
  • Facioauriculovertebral sequence
  • FAv sequence
  • Expanded spectrum of hemifacial microsomia
  • Facioauriculovertebral dysplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.