Klippel-Feil syndrome

The spine consists of small, stacked bones called vertebrae separated by soft, shock-absorbing spinal discs. In Klippel-Feil syndrome, two or more of the bones in the neck are fused together before birth. This is a rare condition that affects one out of every 40,000 births, and it affects girls more often than boys.

About Klippel-Feil syndrome

Klippel-Feil syndrome can be mild and might not even be detected until later in life. This condition can be associated with other spinal disorders, including kyphosis, scoliosis and spina bifida. It can also occur with abnormalities in other parts of the body, including the hands, ribs, head, shoulder blades, heart and kidneys. The severity of Klippel-Feil syndrome varies and depends on the presence of other problems. There is no cure for Klippel-Feil syndrome. 

Experts in Klippel-Feil syndrome

At the AIM Spine Center at Children’s Wisconsin, our pediatric spine experts work together to provide outstanding and compassionate care for even the most complex spinal disorders and spine trauma in infants, children and teens. If your child has already been diagnosed at another center, we invite you to get a second opinion for Klippel-Feil syndrome at the AIM Spine Center. 

What causes Klippel-Feil syndrome?

This condition occurs when the neck vertebrae develop abnormally during the early stages of pregnancy. This can happen spontaneously with no known cause, but in some cases, Klippel-Feil syndrome is caused by genetic mutations that can be inherited. 

Why is Klippel-Feil syndrome a concern?

This condition might not cause any problems, but it can sometimes lead to chronic pain. If a child develops neck or back pain, it can affect their quality of life, disrupting sleep, school, sports and other activities. It can also increase a child’s risk of spinal injury because adjacent neck vertebrae might be less stable and more prone to stress and injury, especially over time. 

What are the symptoms of Klippel-Feil syndrome?

Signs and symptoms of this condition could include:

• Frequent headaches
• Neck/back pain
• Reduced range of motion in the upper spine
• Nerve issues (numbness, tingling, etc.)
• Short, webbed neck
• Low hairline at the back of the head
• Torticollis (twisted or crooked neck)

Always consult your child’s doctor if you have concerns or notice anything new.

How is Klippel-Feil syndrome diagnosed?

Your child’s doctor might suspect Klippel-Feil syndrome based on your child’s physical characteristics (such as a short neck and low hairline) or the presence of related conditions. The doctor might use the following imaging tools to assess your child’s spine:

• EOS scanner – Children’s was one of the first pediatric hospitals in the nation to have this scanner, which provides detailed, 3D images and limits radiation exposure.
• CT scan – More detailed than an X-ray, a CT scan uses a combination of X-rays and computer technology to produce cross-sectional, detailed images of parts of the body, including the bones, muscles, fat and organs.
• MRI – Uses a magnet, radio waves and a computer to create very detailed, 3D still and moving images.

The doctor might also order genetic testing to confirm the diagnosis.

Treatment for Klippel-Feil syndrome

Children’s spinal specialists will recommend the best treatment for your child based on:

• Your child’s age, overall health and medical history
• Extent of the disease
• Your child’s tolerance for specific medications, procedures or therapies
• Expectations for the course of the disease
• Your opinion or preference

Treatment could include:

Medical management – Anti-inflammatory medications can relieve children’s pain.

Physical therapy – Physical therapy can ease pain and increase range of motion. Our physical therapy program offers a rehabilitation space designed for spinal conditions.

Surgical repair – If your child’s condition is causing severe pain or if the neck vertebrae are very unstable, your child’s doctor might recommend surgery. Surgical treatment could involve removing parts of bone that are pressing on the spinal cord or brainstem or using growing rods to stabilize the spine. Your child’s spinal care team will advise you on the best options for your child. 

Long-term outlook after Klippel-Feil syndrome

The prognosis for Klippel-Feil syndrome is generally good, especially if treated early. After your child fully recovers from surgery, they should be able to return to regular activities but should avoid activities that could lead to neck injuries. Your child will need to be monitored by a specialist long-term in case new problems develop.