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What Is Goldenhar Syndrome?

April 23, 2013
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Disability Living is a blog committed to hosting conversations that are beneficial to the entire disability community of Canada. Individuals with birth defects often have resulting disabilities. Such individuals comprise a significant portion of Canada’s disability community. If you or your child has a disability caused by a birth defect, we invite you to visit the Disability Living blog as often as you like.

What is the birth defect known as “Goldenhar syndrome”?

Disability Living is blogging this week about birth defects that impact the lives of so many. One such birth defect is called Goldenhar syndrome. “Goldenhar syndrome is a variant of hemifacial microsomia, with the additional presence of benign eyeball or eyelid tumors.”

Goldenhar syndrome, categorized as a congenital birth defect, affects a person’s head, spine and neck. As is the case with most birth defects, Goldenhar syndrome can be either mild or severe. This birth defect “occurs with a frequency of one in every 3,000-5,000 live births. Males are affected more frequently than females.”

What areas of the body does Goldenhar syndrome impact?

Goldenhar syndrome, also known as oculoauicular dysplasia or oculoauriculo-vertebral spectrum (OAV), impacts many different body parts. Here are a few areas that can be disfigured or under-developed due to Goldenhar syndrome:

– Jaw
– Ears
– Facial muscles
– Cheekbones
– Eyes
– Vertebrae
– Other organs

Individuals with severe cases of Goldenhar syndrome are sometimes born missing an eye. These people may also experience hearing/vision-related problems, as well as abnormalities of the ribs and spine.

Other symptoms of Goldenhar syndrome include…

Here are several other symptoms of Goldenhar syndrome:

– Hearing problems
– “Muscle weakness in underdeveloped portions of the face”
– Dental issues
– Tongue/soft palate deformities
– Fusion of bones in the spine and neck

It’s clear that Goldenhar syndrome causes serious medical problems and disabilities. In addition to the physical troubles this birth defect brings, it’s worth noting that it often causes a person to experience social isolation and general misunderstanding from others. By simply reading this blog post you have done much to raise awareness of Goldenhar syndrome and help put an end to the stigma surrounding those who have this birth defect.

Sources:

http://www.craniofacial.net/syndromes-goldenhar
http://www.faces-cranio.org/Disord/Golden.htm
http://www.healthline.com/galecontent/goldenhar-syndrome#2

*Please note: All research for this article is compiled from direct and third party sources. Mention of programs, organizations and companies does not imply support of The National Benefit Authority.  Pictures are for creative purposes only; they are not intended to sell or promote products for the NBA and belong to the accredited individual, organization or company.

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