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Goldenhar syndrome (oculo-auriculo-vertebral dysplasia or OAV)

Goldenhar syndrome (oculo-auriculo-vertebral dysplasia or OAV) is a congenital (present at birth) defect that causes facial and spine abnormalities.

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What is Goldenhar syndrome (oculo-auriculo-vertebral dysplasia or OAV)?

Babies born with Goldenhar syndrome, also known as oculo-auriculo-vertebral dysplasia (OAV), typically have birth defects that impact only one side of the face or the spine. This will include noticeable differences in the chin, ears, eye, mouth and spine.

What are the signs and symptoms of Goldenhar syndrome (oculo-auriculo-vertebral dysplasia or OAV)?

Symptoms of a Goldenhar syndrome include:

Anophthalmia

Missing eye

Benign (noncancerous) eye tumors or cysts

Fused spine

Hemifacial microsomia

Underdeveloped cheek and jawbones

Incomplete or delayed growth

Kyphosis

The child's back rounds forward

Missing or fused ribs

Microtia

Partially formed ear

Anotia

Missing ear

One corner of mouth may be higher than the other

Organ and central nervous system damage

Heart, kidneys, lungs, nerves and tissues

Thoracic insufficiency syndrome

Reduced lung function from the curving spine or abnormal growth

Scoliosis

Curving of the spine - occurs in 50 percent of Goldenhar cases

What are the causes of Goldenhar syndrome (oculo-auriculo-vertebral dysplasia or OAV)?

The exact cause of Goldenhar is unknown, but it is thought that a genetic mutation occurs sometime during development in the womb. It is not normally hereditary – only 1 to 2 percent of all children will inherit it from a parent.

Goldenhar syndrome (oculo-auriculo-vertebral dysplasia or OAV) doctors and providers