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What is Klippel-Feil Syndrome?

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  • Written By: Debra Durkee
  • Edited By: Daniel Lindley
  • Images By: Mediablitzimages, Laurent Dambies, n/a, Syda Productions, Bellemedia
  • Last Modified Date: 17 September 2016
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Klippel-Feil syndrome is a condition in which several of the vertebrae in the neck are fused together. This disorder develops in the early stages of a baby's development, usually in the first one to two months. It manifests itself in limited neck and head movement, awkward resting position of the head, and a short neck, and can cause a number of secondary conditions.

There are seven vertebrae in the neck, and in Klippel-Feil syndrome there are at least two that do not develop the separation that normally allows vertebrae to move. It is also possible for more than two vertebrae to be fused together; the more that are fused, the greater the symptoms. Outward signs of a problem can include a low hairline in the back that goes farther down the neck than normal, as well as a relatively short neck and asymmetrical facial features. There is also a high instance of scoliosis found in individuals with Klippel-Feil syndrome. Since the fusion of the vertebrae occurs before birth, the condition is always present.

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The health of the neck and spine is vital to the health of the rest of the body; because of this relationship, there are also a number of conditions associated with Klippel-Feil Syndrome. An individual can have difficulty swallowing or chewing, be vulnerable to frequent headaches or dizziness, and display varying degrees of blurred vision or deafness. There are a number of symptoms and deficiencies that are associated with the disorder; some individuals may have a cleft palate, cranial tumors, or abnormalities in the urinary systems as severe as a missing kidney.

Prognosis varies with the severity of each case. With proper treatment, many individuals born with Klippel-Feil syndrome develop minimal consequences from the disorder. Mechanical symptoms such as limited range of motion in the neck and head can be treated and minimized with physical therapy. In other, more severe cases, an individual can end up paralyzed after a small trauma to the neck or spine, so extreme care must be taken in all activities. No matter what the severity, those with Klippel-Feil syndrome should avoid contact sports and other activities where there is a chance of physical trauma or of sustaining impact injuries.

Most cases involve some sort of physical therapy in treatment. Other options include surgery or the careful application of traction to help increase movement and decrease the impact of other symptoms. In some individuals, the vertebrae that are not fused can become more flexible than the vertebrae found in healthy spines, making up for the areas with a lack of motion.

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