National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Goldenhar disease



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?


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 rare diseases, there is often not a calculated incidence or prevalence because there is no official method for tracking them. 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 these data, a very rough estimate for the number of people in the United States with Goldenhar syndrome ranges from 13,000-56,000 and estimates for the number of people worldwide with the syndrome ranges from 300,000-1,300,000. Currently, we are unaware of estimates regarding bilateral (affecting both sides of the body) disease, specifically.
Last updated: 5/22/2017

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

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GARD Information Specialist

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  1. 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.