Goldenhar Syndrome

Overview

What is Goldenhar syndrome?

Goldenhar syndrome is a rare congenital condition. (Congenital means it’s present at birth.) It’s a type of craniofacial condition, meaning it causes irregularities in the shape or development of your face or head. Specifically, Goldenhar syndrome typically affects your spine, ears and eyes.

People with Goldenhar syndrome usually have underdeveloped bones and muscles on one side of their face (hemifacial microsomia) or both sides. They may also have cleft lip or cleft palate.

Goldenhar syndrome gets its name from Maurice Goldenhar, the researcher who discovered it in 1952. It’s also called oculo-auriculo-vertebral dysplasia:

  • Oculo refers to eyes.
  • Auriculo refers to ears.
  • Vertebral refers to the spine.
  • Dysplasia means a body structure develops differently.

How common is Goldenhar syndrome?

Goldenhar syndrome is rare. Experts estimate that between 1 in 3,500 and 1 in 25,000 babies are born with the condition. It’s slightly more common in those assigned male at birth (AMAB) than those assigned female at birth (AFAB).

Symptoms and Causes

What causes Goldenhar syndrome?

Experts don’t know exactly what causes Goldenhar syndrome. It occurs because of a change in a chromosome, but researchers don’t always know what causes that change. In up to 2% of cases, babies may inherit Goldenhar syndrome from one or both parents.

Some research shows that when you’re pregnant, certain conditions or medications may increase the risk that your baby will have Goldenhar syndrome. These include:

What are the symptoms of Goldenhar syndrome?

One of the most common signs of Goldenhar syndrome is hemifacial microsomia. Hemifacial microsomia often causes an underdeveloped jaw, cheek and eye on one side of your face.

Some people have one unusually small ear (microtia). Others may be missing one ear (anotia) or have hearing loss.

Up to 1 in 3 people with Goldenhar syndrome have underdevelopment on both sides of the face. They may also have problems with their kidneys, heart, lungs or spinal bones (vertebrae). Up to 15% of people with Goldenhar syndrome have a type of intellectual disability.

Other Goldenhar syndrome symptoms include:

Diagnosis and Tests

How is Goldenhar syndrome diagnosed?

Healthcare providers may diagnose babies with Goldenhar syndrome based on physical symptoms. They may use additional tests such as:

  • CT scans, which may show changes in ear structures that contribute to hearing loss.
  • Echocardiogram (echo test) or electrocardiogram (EKG) — tests to evaluate heart function.
  • Eye exams, which look at the inside of your eye for irregularities.
  • Ultrasound and X-ray, which may show changes in your skull, spine, lungs or kidneys.
  • Genetic testing, which may rule out other genetic conditions that cause similar symptoms.
  • Sleep studies, which check for obstructive sleep apnea.

Can you diagnose Goldenhar syndrome before birth?

Rarely, healthcare providers may detect signs of Goldenhar syndrome in a fetus. They may notice jaw, ear or mouth changes on a prenatal ultrasound.

Management and Treatment

How is Goldenhar syndrome treated?

Goldenhar syndrome treatment varies based on symptoms. If symptoms are mild, children may not need treatment. Treatment may include:

  • Feeding assistance with special bottles or nasogastric (NG) feedings.
  • Eyeglasses or surgery to improve vision.
  • Hearing aids or bone-anchored auditory implants to help you hear.
  • Speech therapy to increase language and communication skills.
  • Surgery to correct a heart defect, cleft lip or palate, obstructive sleep apnea, microtia or spinal defect.

Can Goldenhar syndrome facial irregularities be corrected?

Yes. You or your child may have cosmetic surgery to make facial features more symmetrical. Many babies with Goldenhar syndrome have surgery to change the appearance of their jaw, cheekbones, ears or forehead.

Prevention

How can I prevent Goldenhar syndrome?

Because experts don’t know what causes Goldenhar syndrome, there’s no way to prevent it. During pregnancy, follow all of your healthcare provider’s instructions. Avoid medicines with retinoic acid, and eat a healthy diet.

If you have a family history of Goldenhar syndrome, genetic testing and counseling can help you understand the chances of having a child with the condition.

Outlook / Prognosis

Does Goldenhar syndrome affect life expectancy?

While Goldenhar syndrome outlook can vary, many people have positive outcomes. With treatment, children with the condition usually live a typical lifespan.

Living With

What else should I ask my doctor?

You may want to ask your healthcare provider:

  • What are the signs of Goldenhar syndrome?
  • What tests does my child need to diagnose Goldenhar syndrome?
  • What are the treatment options?
  • Where can I learn more about Goldenhar syndrome?
  • What support resources are available for people with Goldenhar syndrome?

Frequently Asked Questions

Is Goldenhar syndrome a disability?

Yes. Hearing and vision problems can be considered a disability. Additionally, intellectual disability may increase a person’s need for support when living with Goldenhar syndrome.

What conditions have similar symptoms as Goldenhar syndrome?

Several conditions cause symptoms similar to Goldenhar syndrome, including:

  • Branchiootorenal (BOR) syndrome.
  • CHARGE association.
  • Townes-Brocks syndrome.
  • Treacher Collins syndrome.
  • VACTERL association.

A note from Cleveland Clinic

Goldenhar syndrome is a rare congenital condition, meaning you’re born with it. It causes changes in the shape of your baby’s face, head and sometimes organs. Healthcare providers may surgically treat facial or spinal malformations during infancy. Children with mild symptoms may not need treatment, and most people with Goldenhar syndrome live a fulfilling life.

Last reviewed by a Cleveland Clinic medical professional on 04/19/2022.

References

  • Genetic and Rare Diseases Information Center. Goldenhar disease. (https://rarediseases.info.nih.gov/diseases/6540/goldenhar-disease) Accessed 4/19/2022.
  • National Organization for Rare Disorders. Oculo-Auriculo-Vertebral Spectrum. (https://rarediseases.org/rare-diseases/oculo-auriculo-vertebral-spectrum/) Accessed 4/19/2022.

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