How Is Goldenhar Syndrome Diagnosed and Treated?

The Disability Living blog is committed to writing posts that benefit individuals with disabilities. Many people have disabilities that are caused by birth defects. Some of these individuals have been disfigured by their birth defects. This week Disability Living is blogging about such issues. Are you affected by a disfiguring birth defect?

What is Goldenhar syndrome?

“Goldenhar Syndrome is a congenital birth defect which involves deformities of the face. It usually affects one side of the face only.” Goldenhar syndrome is disfiguring and can cause disabilities, as well as social and emotional problems (as is the case with any major illness, disability or birth defect). A few symptoms/traits of this birth defect include:

– Underdeveloped or missing ear
– Chin that is closer to the malformed ear
– Absent eye
– Uneven mouth
– “Benign growths of the eye”

How is Goldenhar syndrome diagnosed?

Goldenhar syndrome must be diagnosed by a physician. When searching for a diagnosis, a doctor will often examine a person’s nervous system to ensure it is in working order. The brain, spine, and facial skeleton will also be examined. The facial skeleton is examined to let a doctor know if a child is able to breathe, swallow, and make normal sounds.

Goldenhar syndrome should be diagnosed early.

With Goldenhar syndrome, an early diagnosis is ideal. This is because the condition may inhibit a child’s normal bodily functions and sometimes requires prompt treatment. Reconstructive surgery is often used to treat this birth defect (to allow a child to perform necessary functions). Some surgeries will need to be done early in a child’s life, and some when a child is older and has developed further. Here are a few common reconstructive surgeries for people with Goldenhar syndrome:

– Lowering of the jaw
– Lengthening of the jaw
– Addition of soft tissue
– Adding bone to build up the cheeks
– Rebuilding of the ear

Raise awareness of Goldenhar syndrome today.

Individuals with Goldenhar syndrome need social support and understanding. You can help them by raising awareness of this disfiguring birth defect. Let others know what you’ve learned about Goldenhar syndrome by referring them to this blog post or other resources.