Goldenhar Syndrome

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The fellowship-trained pediatric orthopedic specialists with Norton Children’s Orthopedics of Louisville (COOL), affiliated with the UofL School of Medicine, can provide specialized orthopedic care for children with Goldenhar syndrome.

What Is Goldenhar Syndrome?

Goldenhar syndrome, also known as oculo-auriculo-vertebral (OAV) spectrum, is a rare congenital condition in which the eyes, ears and spine develop abnormally. Children with the condition are born with absent or partially formed ears, spinal conditions such as scoliosis, and can have benign growths on the eyes. The condition also can affect the structure of the face and organs, such as the heart, kidney, lungs and nervous system. In many cases, only one side of the body is affected.

Spine and rib cage issues are common with Goldenhar syndrome. The condition can cause vertebrae in the spine or the ribs to be fused abnormally, missing completely or not fully formed. About half of children with Goldenhar syndrome will have a form of congenital scoliosis. This can cause issues with growth and pulmonary disorders.

Goldenhar Syndrome Causes

The origin of the condition is unknown. It can be inherited, although rarely, since most cases occur in families with no history of the syndrome.

Goldenhar Syndrome Symptoms

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

  • Abnormal rib structure, which could include missing or fused ribs
  • Breathing issues
  • Craniofacial abnormalities, including:
    • Benign cysts or growths in eyes
    • Cleft lip
    • Partially formed or missing ear
  • Heart defects
  • Kidney and urogenital issues
  • Spinal issues that lead to scoliosis, kyphosis or both

Goldenhar Syndrome Treatment

Treatment plans for Goldenhar syndrome will be unique based on a child’s age, diagnosis and current condition. Children with Goldenhar syndrome may have symptoms that affect many parts of the body, requiring treatment from a variety of pediatric specialists. The pediatric orthopedic specialists with COOL work with specialists from across the Norton Children’s network to provide care through a multidisciplinary approach that treats the whole child.

Many children with Goldenhar syndrome are diagnosed with orthopedic conditions including:

Treatment will depend based on the orthopedic symptoms the child has. Some children may need nonsurgical or surgical interventions. The pediatric orthopedic specialists with COOL will create a unique treatment plan for the child that may include:

  • Bracing
  • Implantation of growing rods
  • Physical therapy
  • Spinal fusion
  • Vertical expandable prosthetic titanium ribs (VEPTR)

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