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What causes Goldenhar Syndrome?

Dr. Jeanne Morrison, PhD
Family Practitioner

The exact cause of Goldenhar syndrome is unknown. It is a birth defect and like other birth defects it's believed to be influenced by environmental factors such as such as exposure to alcohol, certain medications, diseases, infections, or poor diet. For example, low folic acid levels during a women's pregnancy have been linked to children born with a cleft palate and/or cleft lip; two symptoms that can occur with Goldenhar syndrome.
The majority of cases occur randomly though it has been reported in different generations within a family. Abnormal genes passed from one or both parents may be responsible. In other cases, it is thought to be caused by a lack of blood to the fetus at some point during its development.

Stuart A. Linder, MD
Plastic Surgery

Goldenhar Syndrome may have multifactorial causes. Although unknown, there is most likely a genetic component and is often familial. During the first 3 months of pregnancy, there is a developmental issue with the brachial arch. The symptoms include inadequate development of the mandible, ear, nasal area, soft palate, lip and possibly one side of the body or torso. Some refer to this syndrome as hemifacial microsomia. 

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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.