Goldenhar disease

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.

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.

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.

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.

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.

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.

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:

• Feeding issues - some people affected by Goldenhar syndrome may have feeding difficulties caused by the associated craniofacial abnormalities. Interventions may include special bottles, supplemental nasogastric feedings, and gastrostomy tube placement.
• Breathing problems - affected people with an underdeveloped lower jaw may have difficulty breathing or develop sleep apnea. In these cases, referral to appropriate medical specialists is recommended so appropriate care can be provided.
• Hearing loss - a hearing evaluation is recommended in all children with Goldenhar disease by 6 months of age. In those with hearing impairment, hearing aids or other treatments may be recommended.
• Epibulbar tumors (noncancerous growths in the eyes) - these tumors may need to be surgically removed if they are particularly large or interfere with vision.
• Craniofacial abnormalities (i.e. cleft lip and/or palate), congenital heart defects, kidney problems, and/or spine abnormalities - some of the characteristic symptoms associated with Goldenhar disease may require surgical repair.
• Speech - people affected by Goldenhar disease are at an increased risk for a variety of speech problems due to the many associated craniofacial abnormalities. A speech evaluation and/or speech therapy may, therefore, be recommended in some affected people.

FACES: The National Craniofacial Association offers an information page on Goldenhar disease. Please click on the link to access this resource.