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goldenhar syndrome

what is Goldenhar syndrome?

Goldenhar syndrome is a rare condition that you are born with. It affects one in every 3,000-5,000 births. It is usually identified by abnormal development of the eye, ear and spine.

Goldenhar syndrome is also known as oculo-auriculo-vertebral spectrum or OAV. The condition was first identified in 1952 by Maurice Goldenhar, an ophthalmologist and general practitioner.

Children with Goldenhar syndrome are born with partially formed ears or no ears at all, problems with the eyes, and spinal problems, such as scoliosis. Goldenhar syndrome may also affect the face and other body organs, such as heart, kidney, lungs and nervous system (the brain, spinal cord and nerves working together). In most cases, the deformity only affects one side of the body.

One aspect of Goldenhar syndrome is underdeveloped jaw and cheekbones on one side of the face. This underdevelopment, along with eye and ear anomalies, leads to unique facial features.

Spine and rib cage deformities are also common. Sometimes vertebrae in the spine or ribs are not fully formed, missing or are fused differently than normal. About half of people with Goldenhar syndrome will have a form of scoliosis that they are born with. Issues with the spine can lead to growth problems and pulmonary (lung) disorders.


There is not a known cause of Goldenhar syndrome. Most cases of Goldenhar syndrome happen in families with no previous history of the syndrome.

Rarely, Goldenhar syndrome can be inherited and follow an autosomal dominant pattern. That means if one parent has Goldenhar syndrome, each of their children has a 50% chance of getting the disorder. Most individuals with Goldenhar syndrome have a very low chance of having a child with the disorder.

signs and symptoms

Symptoms of Goldenhar syndrome can vary, but may include one or more of the following:

  • Spinal deformities, leading to scoliosis (spinal curve), kyphosis or both.
  • Atypical rib structure including missing or ribs that have merged. This can lead to poor growth, problems in the chest and decreased lung function.
  • Craniofacial deformities including:
    • Underdeveloped jaw and cheekbones on one side of the face affecting the ear, mouth and jaw areas
      • Cleft lip or cleft palate
      • A wider than normal mouth; one side may be higher than the other
      • Problems with the eyes
      • Partially formed or no ears at all (microtia)
  • Hearing loss, usually in one ear
  • Heart problems
  • Respiratory issues
  • Kidney and urology issues
  • Central nervous system defects

testing and diagnosis

Diagnosing Goldenhar syndrome begins with a thorough medical history and physical examination of your child. The care time will use different diagnostic tests to diagnose including:

  • X-rays, which take pictures of bones
  • Magnetic resonance imaging (MRI), which uses a magnetic field and radio waves to produce detailed pictures of the body's organs and structures. Computed tomography (CT) scan, which uses a combination of X-rays and computer technology to produce cross-sectional images ("slices") of the body.
  • Genetic testing, in which a sample of your child’s saliva (spit) is used to identify your child’s DNA.
  • EOS imaging, which is a low dose medical imaging system that can take a scan while a patient stands or sits. It provides excellent anatomic detail with very low radiation dose. It is especially useful for patients with scoliosis but can be used to evaluate the legs and hips.

Children with Goldenhar syndrome may have other health issues, too. These issues may include heart, lung or kidney problems. This is because the child’s organs may have experienced disrupted development while in utero.

Therefore, an ultrasound may be conducted to identify any other problems. Additional tests may include heart evaluation and hearing tests.

All of these tests will help the care team to understand your child’s medical health and help them to develop the care plan.


Treatment for Goldenhar syndrome is different for every child. For some children, monitoring may be all that is required. In other cases, surgery may be needed.

Many of the issues that come with Goldenhar syndrome are known at birth and can be treated while your child is young. These may include club feet, hand disorders and craniofacial deformities.

Other issues of Goldenhar syndrome may only become noticeable as your child grows. These  include spinal deformities, such as scoliosis, dislocated hips and joint disorders.

Depending on your child’s needs, our orthopedic providers will follow your child’s growth and changes in the spine and rib cage.

Children with problems in the chest will be treated by our pulmonary experts at Dayton Children’s.