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Diseases

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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Symptoms

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What are the signs and symptoms of Goldenhar disease?

The major signs and symptoms of Goldenhar disease are usually only seen on one side of the body. These major features include a partially formed ear (microtia) or totally absent ear (anotia), noncancerous (benign) growths of the eye (ocular dermoid cysts), and spinal abnormalities. Affected individuals may have a variety of other signs and symptoms involving the ears, eyes, and spine as well as the face, heart, lungs, and central nervous system. The severity of these features can vary greatly among individuals with Goldenhar disease.[1]
Last updated: 11/9/2010

References
  1. Goldenhar syndrome. Orphanet. February, 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=374. Accessed 11/4/2010.


Other Names for this Disease
  • Facioauriculovertebral sequence
  • FAv sequence
  • Goldenhar 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.