Goldenhar Syndrome is a rare congenital condition that mainly affects the development of the eye, ear, facial muscles and bones, as well as the spine. Usually the underdevelopment is present on only on one side.
What is Goldenhar Syndrome?
Goldenhar Syndrome is a rare condition that is present at birth and mainly affects the development of the eye, ear, facial muscles and bones on one side of the face. Today Goldenhar Syndrome only effects every 1 out of 3,500 to 25,000 babies1 and the medical community is continuing their education and research about what causes Goldenhar Syndrome.
Typically most diagnosed cases of Goldenhar Syndrome occur irregularly in people with no family history of the condition. Some researchers suspect that it could be potentially inherited since 1-2% of those with this condition have other family members with the same diagnosed condition.2,3 Other researchers suspect that there was potential disruptions during fetal development, such as lack of blood flow or environmental factors.4,5
Signs and symptoms of Goldenhar Syndrome, vary from person to person and severity differs significantly in each individual diagnosis. Some of the most common characteristics of Goldenhar Syndrome include:
- Microtia and atresia– which is a partially formed ear or a completely absent ear, which can cause conductive hearing loss
- Other ear abnormalities that can also lead to conductive hearing loss
- Underdeveloped facial muscles, jaw, cheekbone and/or temple bone
- Cleft lip and/or palate
- Facial asymmetry
Due to the complexity of this syndrome the characteristics listed above may also have implications on your health. Some collective health conditions that are caused by Goldenhar Syndrome include but are not limited to: 6,7
- Hearing loss, specifically conductive hearing loss
- Vision problems
- Respiratory issues
- Kidney issues
- Central nervous system defects
- Spinal deficiencies
What’s the connection between Goldenhar Syndrome and Conductive hearing loss?
Conductive hearing loss is when there is a barrier or damage to the outer or middle ear which prevents sound vibrations to travel to the inner ear. For those with Goldenhar Syndrome, conductive hearing loss is often diagnosed due to atresia, the under development of the ear and/or other ear abnormalities. A bone conduction implant system could be a solution for those who suffer from conductive hearing loss since the implant bypasses the damaged part of the outer and middle ear and sends clean, crisp sound directly to your inner ear.8
If you have Conductive Hearing Loss, the Baha System can help.
The Baha® Implant System helps you hear through direct bone conduction-which uses your body’s natural ability to conduct sound by picking up sound vibrations from the environment and transferring them to a small titanium implant inserted into the bone behind your ear. The vibrations are then sent directly through the bone to the inner ear through a process called direct bone conduction.
For over 40 years bone conduction implants have significantly changed the lives of those who struggle with single-sided deafness, conductive hearing loss and mixed hearing loss. Those who have treated their hearing loss with the Baha Implant System reported a significantly higher quality of life than compared to when they left their hearing loss untreated.9
As result of Goldenhar Syndrome, David D. has struggled with conductive hearing loss for over 60 years. Watch how the Baha System helped David hear the sounds he loves most.
David was born with Goldenhar Syndrome which left him without a fully developed ear which caused a conductive hearing loss on his left side. For the first 60 years of David’s life, he struggled to hear. He had a difficult time hearing the ones he loved the most and didn’t feel as if he was living his best life possible. Thanks to the Cochlear™ Baha® Implant System David is confident that he is living his best life and no longer has to cope with his hearing loss.
If you or your loved struggle to hear due to Goldenhar Syndrome learn more about how the Baha System can help https://www.cochlear.com/us/Baha-Indications.
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Digilio MC et al. Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome). AJMG. 15 July 2008;146A(14):1815-1819; https://www.ncbi.nlm.nih.gov/pubmed/18553555
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Ted L Tewfik, MD. Manifestations of Craniofacial Syndromes. Medscape Reference. April 2015; https://emedicine.medscape.com/article/844209-overview#a6.
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Goldenhar Syndrome. FACES: The National Craniofacial Association. February 2016; https://www.faces-cranio.org/pdf/GOLDENHAR.pdf.
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Goldenhar syndrome. Orphanet. March 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=374.
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Ted L Tewfik, MD. Manifestations of Craniofacial Syndromes. Medscape Reference. April 2015; https://emedicine.medscape.com/article/844209-overview#a6.
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Heike CL, Luquetti DV, and Hing AV. Craniofacial Microsomia. GeneReviews. October 9, 2014; https://www.ncbi.nlm.nih.gov/books/NBK5199/
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Jakobiec FA, Stagner AM, Katowitz WR, Eagle RC Jr. Abnormalities of the eyes, such as droopy eyelids, anophthalmia/microphthalmia, epibulbar tumors (noncancerous growths in the eyes), retinal abnormalities, and vision loss. Surv Ophthalmol. February 2016;
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Gustafsson J. BCDrive performance vs. conventional bone conduction transducer. Cochlear Bone Anchored Solutions AB, 629908, 2015.
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Dutt, S. N., McDermott, A., Jelbert, A., Reid, A. P., & Proops, D. W. (2002). The Glasgow benefit inventory in the evaluation of patient satisfaction with the bone-anchored hearing aid: quality of life issues. JOURNAL OF LARYNGOLOGY AND OTOLOGY, (SUPP/28). 7.
