Don’t fight Goldenhar disease alone.
Find your community on the free RareGuru App.Goldenhar disease is a condition that is present at birth and mainly affects the development of the eye, ear, and spine. The main sign and symptoms 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. 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. 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 during the growth and development of the skull and face.
Source: GARD Last updated on 05-01-20
The signs and symptoms of Goldenhar disease vary significantly from person to person. Common signs and symptoms of the condition include:
In most cases, only one side of the face is affected, although approximately 10-33% of people with the condition have bilateral (both sides) involvement.
Some people with Goldenhar syndrome may also experience hearing loss; hydrocephalus (with or without intellectual disability); heart, kidneys, and lung problems; spinal abnormalities; and/or limb malformations.
Last updated on 05-01-20
The underlying cause of Goldenhar disease is poorly understood. Most cases occur sporadically with no apparent explanation. Some researchers suspect that problems with blood flow or other disruptions during fetal development may contribute to the development of the condition.
Approximately 1-2% of affected people have other family members with the condition, which suggests that genes may play a role in some cases.
Last updated on 05-01-20
A diagnosis of Goldenhar disease is based on the presence of characteristic signs and symptoms. These clinical features may be observed on physical examination or may require specialized testing such as imaging studies (i.e. CT scan, X-ray, echocardiogram, ultrasound). Additional testing including certain genetic tests may also be recommended to rule out conditions that are associated with similar features.
Last updated on 05-01-20
Most cases of Goldenhar disease occur sporadically in people with no family history of the condition. Rarely (approximately 1-2% of affected people), more than one family member can be affected. In these cases, the condition appears to be passed down through the family in an autosomal dominant manner.
Last updated on 05-01-20
After an extensive search of the resources available to us, we identified one case report of a single patient diagnosed with Goldenhar disease who had schizophreniform disorder. Case reports document clinic findings associated with individual cases. It is important to keep in mind that the clinical findings documented in these case reports are based on specific individuals and may differ from one affected person to another. We did not identify any additional information regarding a link between Goldenhar disease and mental illness.
Last updated on 05-01-20
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 on 05-01-20
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. 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 on 05-01-20
The treatment of Goldenhar disease is based on the signs and symptoms present in each person. Ideally, affected children should be managed by an experienced multidisciplinary craniofacial team. Treatment is age dependent and certain interventions may be recommended at different stages of growth and development.
The following are examples of medical issues that may need to be addressed in a person affected by Goldenhar disease:
Last updated on 05-01-20
FACES: The National Craniofacial Association offers an information page on Goldenhar disease. Please click on the link to access this resource.
Last updated on 04-27-20
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