Goldenhar syndrome is a rare disorder that’s present at birth. It’s a craniofacial condition, meaning it affects the development of your face and skull. Most babies with the condition have hemifacial microsomia and underdeveloped bones and muscles in one side of their face. With treatment, most children with Goldenhar syndrome live a relatively normal lifespan.
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:
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).
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:
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:
Healthcare providers may diagnose babies with Goldenhar syndrome based on physical symptoms. They may use additional tests such as:
Rarely, healthcare providers may detect signs of Goldenhar syndrome in a fetus. They may notice jaw, ear or mouth changes on a prenatal ultrasound.
Goldenhar syndrome treatment varies based on symptoms. If symptoms are mild, children may not need treatment. Treatment may include:
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.
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.
While Goldenhar syndrome outlook can vary, many people have positive outcomes. With treatment, children with the condition usually live a typical lifespan.
You may want to ask your healthcare provider:
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.
Several conditions cause symptoms similar to Goldenhar syndrome, including:
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.
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