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Klippel-Feil Syndrome What is Klippel-Feil Syndrome? Klippel-Feil Syndrome is a rare disorder characterized by the congenital fusion of any 2 of the 7 cervical (neck) vertebrae. It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. In 1912, Maurice Klippel and Andre Feil were independently the first to describe Klippel-Feil syndrome. Symptoms of Klippel-Feil Syndrome The most common symptoms of Klippel-Feil Syndrome are short neck, low hairline at the back of the head, and restricted mobility of the upper spine. Associated abnormalities may include scoliosis, spina bifida, anomalies of the kidneys and the ribs, cleft palate, respiratory problems, and heart malformations. The disorder also may be associated with abnormalities of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs, and fingers. Can Klippel-Feil Syndrome be Treated? Treatment for Klippel-Feil Syndrome is symptomatic and may include surgery to relieve cervical or craniocervical instability and constriction of the spinal cord, and to correct scoliosis. Physical therapy may also be useful. What is the prognosis of Klippel-Feil Syndrome? The prognosis for most individuals with Klippel-Feil Syndrome is good if the disorder is treated early and appropriately. Activities that can injure the neck should be avoided. |
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