Goldenhar+Syndrome

=Goldenhar Syndrome=

What it is
Goldenhar syndrome is a congenital condition that is associated with abnormalities of the head and the bones of the spinal column.

Another name for this condition is oculoauriculo-vertebral spectrum. This name describes the common birth defects seen in Goldenhar syndrome. The term //oculo// represents the eye, //auriculo// represents the ear, and //vetebral// stands for the physical problems present in the vertebrae.


 * What causes it

Risk Factors** Goldenhar syndrome occurs in one of every 3,000 to 5,000 live births. Males are affected more frequently than females

Symptoms
//The abnormalities seen in Goldenhar syndrome are typically limited to the face and vertebrae. Thirty percent of patients have bilateral facial abnormalities. In these patients, the right side is usually affected more severely.//


 * The facial bones**, including the jaw bones (mandible) and cheek bones (maxilla), can be underdeveloped (hypoplasia). This underdevelopment can be limited to one side of the face, called hemifacial microsomia //.// Hemifacial microsomia can occur alone or with Goldenhar syndrome. If an individual has hemifacial microsomia without additional birth defects, Goldenhar syndrome is unlikely. Although this is the case, hemifacial microsomia and Goldenhar syndrome are thought to have similar causes


 * Birth defects of the eye** are common in Goldenhar syndrome. Cysts on the eyeball (epibulbar dermoids) are common, as is micropthalmia (small eye). Some individuals with Goldenhar syndrome have tissue missing from the upper eyelid (coloboma). Strabismus (crossing of the eyes) is also prevalent.


 * Abnormal development of the ears** is another characteristic of Goldenhar syndrome. The ears may be smaller than normal (microtia), or absent (anotia). Ear tags (excess pieces of skin) may be seen on the cheek next to the ear and may extend to the corner of the mouth. The shape of the ears may also be unusual. Hearing loss is common in individuals with Goldenhar syndrome.

The **vertebral problems** seen in Goldenhar syndrome result from incomplete development of the vertebrae. Vertebrae can be incompletely developed (hemivertebrae), absent, or fused. Ribs can also be abnormal. Approximately 50% of individuals with Goldenhar syndrome will have curvature of the spine ( scoliosis ).

Approximately 15% of individuals with Goldenhar syndrome have ** developmental delay or** **mental retardatio**n. The likelihood for mental retardation increases if the individual has micropthalmia. **Heart defects and kidney defects** can also occur.

How to Treat
Once a child is diagnosed with Goldenhar syndrome, additional tests should be performed. A hearing evaluation is necessary to determine if there is hearing loss. If hearing loss is evident, the child should be referred to a hearing specialist. Speech therapy may also be helpful. X-rays of the spine are recommended to determine if there are vertebral problems, and the severity. Individuals with Goldenhar syndrome should also be regularly evaluated for scoliosis. Renal ultrasounds and ultrasounds of the heart may also be recommended, due to the increased risk for birth defects in these areas. A doctor would make this recommendation. Finally, individuals with Goldenhar syndrome should be evaluated by an eye doctor (ophthalmologist).

Surgery may be required to correct the birth defects seen in Goldenhar syndrome. Surgery to correct the facial birth defects can improve appearance and function.

Other advice
The prognosis for individuals with Goldenhar syndrome is very good. These individuals typically have a normal life span and normal intelligence.

Additional Resources
[|Healthline - Goldenhar syndrome]