Goldenhar disease

Alternate names

Goldenhar syndrome; Facioauriculovertebral sequence; FAv sequence; Expanded spectrum of hemifacial microsomia; Facioauriculovertebral dysplasia; OAV dysplasia; OAVS; Oculoauriculovertebral dysplasia; Oculoauriculovertebral syndrome; Expanded spectrum hemifacial microsomia

Definition

Goldenhar disease is a condition that is present at birth and mainly affects the development of the eye, ear, and spine.

Summary

• 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.
• 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.

Limbal dermoid as seen in Goldenhar syndrome

Epidemiology

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.

Cause

• 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.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

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.

Signs and symptoms

The signs and symptoms of Goldenhar disease vary significantly from person to person. Common signs and symptoms of the condition include:

• Microtia (a partially formed or completely absent ear) and other ear abnormalities
• Underdeveloped facial muscles which may be associated with weakness
• Underdeveloped jaw, cheekbone and/or temple bone
• Cleft lip and/or palate
• Abnormalities of the eyes, such as anophthalmia/microphthalmia, epibulbar tumors (noncancerous growths in the eyes), retinal abnormalities, and vision loss
• An unusually large or small mouth
• Dental abnormalities

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.

Diagnosis

• 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.

Treatment

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.

NIH genetic and rare disease info

• NIH info on Goldenhar disease

Goldenhar disease is a rare disease.

Goldenhar disease Resources
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