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What is Goldenhar syndrome?

Stuart A. Linder, MD
Plastic Surgery

Goldenhar's syndrome is a congenital abnormality associated with the head, neck and spinal cord region. The developmental deformities include the facial bones, eyes, ears, and mouth region. The changes can be either unilateral or bilateral. There is hypoplasia of the mandible, maxillae, and facial bones, similar to the syndrome hemifacial microsomia.

Goldenhar syndrome is a birth defect that causes abnormal growth of tissue and bones in the face and skull. Symptoms usually affect one side of the face, although they can affect both sides. A common symptom is one ear that is underdeveloped or missing. Other symptoms range in type and severity and may include:

cleft lip, cleft palatebenign growths around and/or on the eyes (epibulbar dermoids)an underdeveloped or missing eyedeformed upper and/or lower jawfused bones in the neck

Although the exact cause is unknown, environmental factors, genetics, or a combination of both of these influences may increase the risk of a fetus developing Goldenhar syndrome.

Continue Learning about Goldenhar Syndrome

Is Goldenhar Syndrome life-threatening?
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In most cases, Goldenhar syndrome is not life-threatening although complications due to its symptoms...
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Can symptoms of Goldenhar syndrome be treated before birth?
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Your doctor may be able to detect irregular physical symptoms using an ultrasound. However, they can...
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How do medications treat Goldenhar syndrome?
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Medications are not used to treat Goldenhar syndrome. Surgery is often required to treat abnormal ti...
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What other birth defects are similar to Goldenhar syndrome?
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Symptoms of Goldenhar syndromes are similar other craniofacial disorders.  
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Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.