What is Goldenhar Syndrome?

Goldenhar syndrome was named for American ophthalmologist and general practitioner, Maurice Goldenhar (1924-2001). He came to the United States from Belgium in 1940 and returned to Europe after World War II for additional medical studies, later returning to America. In 1952 he first diagnosed what became known as Goldenhar syndrome.

Present at birth, Goldenhar syndrome typically affects the head, face, and spine. Symptoms vary greatly and may be mild or severe. Goldenhar syndrome occurs with a frequency of one in every 3,000-5,000 live births. Males are affected more frequently than females.

Goldenhar syndrome is a variant of hemifacial microsomia, with the additional presence of benign eyeball or eyelid tumors. Hemifacial microsomia can occur alone or with Goldenhar syndrome.

Usually, Goldenhar syndrome usually affects one side of the face, but can affect both sides, usually impacting the right side more severely.

Goldenhar syndrome is also known as oculoauicular dysplasia, oculoauriculo-vertebral spectrum or OAV.

Goldenhar Syndrome Characteristics.

Individuals with this syndrome are typically characterized by the following differences:
-"flat," larger than normal upper jaw
-extremely small lower jaw
-underdeveloped cheekbones
-eye problems may include: small openings, benign growths, missing upper eyelid tissue, and crossed eyes
-underdeveloped facial muscles
-small, malformed, and/or absent ears and/or ear canals
-underdeveloped, absent or fused vertebrae
-underdeveloped organs or heart, kidney, and lung defects

Additional characteristics that may be present include:
-cleft lip and/or palate
-a missing eye
-hearing vision and breathing problems
-fusion of the bones of the neck
-curvature of the spine (scoliosis)
-abnormal ribs

Goldenhar Syndrome Treatment.

Treatment may include grafting to correct the cheek bones, jaw surgery, eye surgery, ear reconstruction, staged orthodontics, palatal closure, speech therapy and hearing aids.

What is the Cause of Goldenhar Syndrome?

The exact cause of Goldenhar syndrome is unknown. There has not been a gene identified that "causes" Goldenhar syndrome.

It may occur because an embryonic blood vessel in the baby's developing face accidentally bursts, creating two growth-related problems. First, a notable slow-down in the blood flow to either one or both sides of the baby's developing face, preventing those structures from growing at a normal rate. Second, formation of a group of blood clots-which interfere with growth as well.

Since it is not genetically linked, most cases are sporadic and the risk of an individual with Goldenhar syndrome to have a child with Goldenhar syndrome is minimal- as are the chances of parents who have a child with Goldenhar syndrome to have another child with this same syndrome. There does not seem to be a connection between anything the mother did (or didn't do) to cause her baby to have Goldenhar syndrome. In some cases, environmental factors may play a role. Although the evidence is circumstantial, Goldenhar syndrome seems to have a higher incidence among offspring of veterans who participated in the Gulf War.

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