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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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Your Question

When was bilateral Goldenhar named? What case initiated this name? What is the correct percentage of people with Goldenhar and bilateral Goldenhar US and Worldwide?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

When was bilateral Goldenhar syndrome named?

The first case of Goldenhar syndrome was described in the following case report published in 1952: 

Goldenhar M. 1952. Associations malformatives de l'oeil et de l'oreille, en particulier le syndrome dermoide epibulbaire-appendices auriculaires-fistula auris congenita et ses relations avec la dysostose mandibulo-faciale. J Genet Hum;1: 243–282.

We do not know what would be considered the earliest published report of bilateral Goldenhar sydnrome, however you may be interested in the following articles describing individuals with bilateral involvement: 

Mounoud RL, Klein D, Weber F. [A case of Goldenhar syndrome: acute vitamin A intoxication in the mother during pregnancy]. J Genet Hum. 1975 Jun;23(2):135-54.  
Thomas P. Goldenhar syndrome and hemifacial microsomia: observations on three patients. Eur J Pediatr. 1980 May;133(3):287-92.  
Fiore C, Santoni G, Lungarotti S, Signorini E. [Report of an atypical case of Goldenhar syndrome]. Ophthalmologica. 1983;186(3):162-8.

Last updated: 2/4/2013

How many people have Goldenhar disease and bilateral Goldenhar disease in the United States and worldwide?

Unfortunately for the rare diseases, there's often not a calculated incidence or prevalence.  There is no official method for tracking these conditions. However, it has been estimated that the frequency of Goldenhar disease ranges between 1 case per 3,500 births and 1 case per 25,000 births.[1]  Given this data, a very rough estimate for the number of affected persons in the United States ranges from 13,000-56,000; and 300,000-1,300,000 affected persons worldwide. Currently we are unaware of estimates regarding bilateral disease specifically.
Last updated: 2/4/2013

References
  • Digilio MC et al. Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome). AJMG. 15 July 2008;146A(14):1815-1819; http://www.ncbi.nlm.nih.gov/pubmed/18553555. Accessed 2/4/2013.