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Goldenhar syndrome (also known as Oculo-Auriculo-Vertebral/OAV syndrome) - sometimes used interchangeably with Hemifacial Microsomia (although this definition is usually reserved for cases without internal organ/verterbrae disruption) - is a congenital defect documented in 1952 by Maurice Goldenhar and affecting between 1/3500 to 1/26000 live births in the UK.

Chief markers of Goldenhar syndrome are incomplete development of the ear, nose, soft palate, lip, and mandible on usually one side of the body. Additionally, there are often issues with internal organs, especially heart, kidneys, and lungs. Typically, the organ will either not be present on one side or will be underdeveloped. Note that whilst it is more usual for there to be problems on only one side, it has been known for defects to occur bilaterally (approximate inicidence 10% of confirmed GS cases). Also, in the United States it has been found that children of soldiers that fought in the Pacific Wars are more likley to have it.

Other problems can include scoliosis (twisting of the vertebrae), lipodermoids (fat in the eye), and hearing loss (see hearing loss with craniofacial syndromes).

Causes of Goldenhar Syndrome are unknown, although there is anecdotal evidence linking it to exposure to certain toxins (e.g. dioxin) before or during pregnancy. There is circumstantial evidence suggesting the incidence of GS is higher in children of Gulf War veterans (see Gulf War Syndrome).

Treatment is usually confined to such surgical intervention as may be necessary to allow the child to develop normally (e.g. jaw transplants in cases where the patient would otherwise be unable to eat properly).

• Goldenhar UK Support Group
• Changing Faces - A UK based charity working with facial disfigurement