What is Klippel-Feil Syndrome

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Klippel-Feil syndrome refers to a rare skeletal abnormality wherein parts of the cervical spine are congenitally and abnormally attached to each other. Normal people have a total of 7 cervical spines and when any two of these spines are abnormally attached, the condition will be referred to as Klippel-Feil syndrome. This medical term is rooted from the two people who first discovered the skeletal abnormality. These people are Maurice Klippel and Andre Feil, both are from France.

With abnormal attachment/s of the cervical spine, people with Klippel-Feil syndrome typically have shortened necks. The abnormal cervical spine also restricts most of the movements around the neck area. This condition is said to be more common in female babies and accounts for a worldwide total of about 40,000 cases in the world on a yearly basis. Diagnosis of the condition may actually be done while the baby is still in his/her mother’s womb, but oftentimes final diagnosis may also be possible after birth.

Aside from the common disturbance in neck movement secondary to the abnormal attachment of the cervical vertebra, there are various other conditions that are commonly associated with Klippel-Feil syndrome. Some patients with shortened necks also display abnormal curvature in their entire spine and this condition is called scoliosis. Some also present with problems in the rib cage along with affectations of vital organs such as the lungs, heart, and kidneys. It is also common for patients with Klippel-Feil syndrome to have spina bifida, a condition wherein the tail end of the spinal cord is not protected due to the improper closure of the tail end of the vertebra.

Klippel-Feil syndrome is said to be due to some mutations in the normal gene of people, although some cases do not present with the suspected gene abnormality. Treatment is generally targeted to increase movement in the neck area to allow patients to live more normal and productive lives. Associated disorders are also treated accordingly. For those with scoliosis for example, external bracing or surgery may be indicated. For people with problems with their vital organs, they may also be subject to several bouts of medication, surgery, and/or therapy.

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