Goldenhar syndrome is a rare disorder that’s present at birth. It’s a craniofacial condition, meaning it affects the development of your child’s face and skull. Most babies with the condition have underdeveloped bones and muscles in one side of their face. With treatment, most people with Goldenhar syndrome live a relatively normal lifespan.
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Goldenhar syndrome is a rare congenital condition. “Congenital” means it’s present at birth. It’s also a type of craniofacial condition, meaning it causes irregularities in the shape or development of your child’s face or head. Typically, Goldenhar syndrome affects the eyes, ears and spine.
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This condition happens in about 1 in every 3,500 to 5,000 births. It’s slightly more common in males. Babies born with Goldenhar syndrome usually have underdeveloped bones and muscles on one side of their face (hemifacial microsomia).
Goldenhar syndrome is also called oculo-auriculo-vertebral spectrum (OAVS):
If your child has OAVS, they’ll likely need care from a team of healthcare providers who treat these body parts. With early treatment, most children go on to live full, healthy lives.
One of the most common signs is hemifacial microsomia. It often causes an underdeveloped jaw, cheek and eye on one side of your child’s face. Usually, it’s the right side. Up to 1 in 3 babies have atypical development on both sides of their face.
Some children have one very small ear on one side. Others may be missing an ear or have hearing loss.
They may also have problems with their kidneys, heart, lungs or spinal bones (vertebrae). Up to 15 out of 100 children with Goldenhar syndrome have some type of intellectual disability.
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Other symptoms and conditions linked to Goldenhar syndrome include:
Experts don’t know what causes Goldenhar syndrome. But they know that it relates to changes in chromosomes. Chromosomes carry genes, which carry instructions for physical traits. These chromosome changes impact how the parts of an embryo that eventually become the face and head develop.
Approximately 2 out of 100 babies born with Goldenhar syndrome have a first-degree relative with the condition. First-degree relatives include parents and siblings. So, in some cases, it’s likely hereditary. But most people with this condition don’t have a family history of it.
Some research shows that untreated gestational diabetes may increase the risk of having a baby with Goldenhar syndrome. It’s also more common in pregnancies involving twins.
Taking certain medicines during pregnancy may increase the risk. Medicines include:
It’s important to remember that most cases of OAVS don’t involve these risk factors. And most babies born with Goldenhar syndrome result from healthy pregnancies. Parents can do everything right and still have a baby with this condition.
Healthcare providers often diagnose babies with Goldenhar syndrome based on their appearance. They may also use tests like:
Rarely, healthcare providers may detect signs of Goldenhar syndrome in a fetus. They may notice jaw, ear or mouth changes on a prenatal ultrasound.
But usually, the diagnosis happens once your baby is born. If symptoms are mild, diagnosis may not happen until your child is a little older. They may need to grow into their features more before the facial differences become noticeable or symptoms start to happen.
Treatment varies based on symptoms. If symptoms are mild, your child may not need treatment. But if they do, treatment may include:
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Yes. Surgery can help make facial features more symmetrical. Many children with this condition have surgery to change the appearance of their jaw, cheekbones, ears or forehead. Surgery to fix an underdeveloped jaw can also address obstructive sleep apnea. It can improve a healthcare provider’s ability to place a breathing tube if it’s needed.
Your child will likely need care from a team of providers across medical specialties. They’ll work together to find the best treatments for your child. They’ll help you decide on a treatment timeline that allows your child to achieve developmental milestones.
In addition to their regular pediatrician, your child may need to see a/an:
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It’s an especially good idea to seek support from a counselor or mental health specialist early on. They can help your child develop a positive self-image that embraces their differences. They can also help families of children with Goldenhar syndrome become better advocates and caregivers.
Having Goldenhar syndrome doesn’t usually affect a person’s life expectancy. With early treatment, most children diagnosed with this condition can go on to live happy, fulfilling lives.
The situation may be different if your child has serious issues with their brain, lungs, heart or kidneys. In that case, the outcome depends on how severe their condition is and other factors that your child’s provider can discuss with you.
Several conditions cause similar symptoms, including:
Not usually. But some children with Goldenhar syndrome do have intellectual disabilities. This is especially the case for children born with abnormalities related to their central nervous system.
Sometimes, the hearing loss linked to the condition makes it challenging for children to learn and understand speech. Early treatment to address these issues can reduce the risk that your child will fall behind on these important developmental milestones.
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The traditional signs are:
But these features are just some of the developmental issues that may arise with Goldenhar syndrome. For instance, children with more serious disease may have major issues with organs, like their heart. This is why the condition is also called oculo-auriculo-vertebral spectrum. The “spectrum” accounts for the range of signs and symptoms linked to this condition.
The days following a child’s birth can feel overwhelming for any new parent. But this is especially the case if your baby has a congenital condition, like Goldenhar syndrome. Learning about what’s involved with this rare diagnosis can feel challenging. It can be hard to make decisions about the best treatment options and timelines.
Although it can feel like a lot, know that you’re not alone. Your child’s care team can walk you through the next steps. And they can suggest resources to connect with other families living with this condition. There is support available to help you become the best parent and caregiver you can be to your child.
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Cleveland Clinic’s health articles are based on evidence-backed information and review by medical professionals to ensure accuracy, reliability and up-to-date clinical standards.
Cleveland Clinic’s health articles are based on evidence-backed information and review by medical professionals to ensure accuracy, reliability and up-to-date clinical standards.
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