What is it?

Klippel-Feil syndrome is a congenital condition, where part of the cervical spine is fused. The normal cervical spine consists of seven vertebrae, each separated by intervertebral disc and articulation that allow movement between each segment. In Klippel-Feil syndrome, there is failure of segmentation that causes fusion of two or more of the cervical vertebrae.

This condition is often associated with other serious problems, including absent or abnormal kidneys, spinal cord abnormalities and Sprengel's deformity.

What are the symptoms?

The condition is painless, but typically, the child presents with a short stiff neck and low posterior hairline. He may have symptoms due to other associated abnormalities.

What does your doctor do about it?

The diagnosis is made by X-rays of the neck. MRI may be necessary to rule out intraspinal abnormalities. Other tests may be necessary if associated visceral problems are suspected.

There is no specific treatment that can correct the Klippel-Feil deformity in the neck. Treatment is directed to any associated abnormalities, and complications as they arise.