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Genetic and Rare Diseases Information Center (GARD)

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Goldenhar disease

Other Names for this Disease
  • Facioauriculovertebral sequence
  • FAv sequence
  • Goldenhar syndrome
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Goldenhar disease is a condition that is present at birth and mainly affects the development of the eye, ear and spine. Affected individuals commonly have 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 facial structure, heart, lungs, kidneys, and central nervous system. The underlying cause of the condition remains unknown.[1]
Last updated: 11/9/2010


  1. Wang W. et al. Hemifacial Microsomia. Online Mendelian Inheritance in Man. August 31, 2010; Accessed 11/3/2010.
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Basic Information

  • The Genetic Alliance is an international coalition comprised of more than 600 advocacy, research and health care organizations representing millions of individuals with genetic conditions. Click on the link to view information on this topic.
  • The Children's Craniofacial Foundation provides general information on microtia. Click on the link to view this fact sheet.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an 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.