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Klippel-Feil Syndrome


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Klippel-Feil Syndrome

... Klippel-Feil Syndrome Klippel-Feil syndrome is a rare, congenital disorder that affects the spine. Major symptoms may include a short neck, low hairline at the back of the head and restricted mobility of the upper spine. There may also be hearing loss and neurologic, cardiac, renal, and respiratory problems. Estimated frequency of occurrence varies widely from 1 in 100 to 1 in 42,000 births, females about 65% of the cases. Many people actually have the syndrome but are never diagnosed because their symptoms may be so minor. The defect occurs around the 5th to 8th week of gestation. The exact cause is unknown at this time, but there does appear to be a mix of both inherited and sporadic cases. Genetic testing is being done at this time to isolate the gene which may be responsible for causing KFS. Shortness of the neck, reduced cervical range-of-motion, and a low posterior hairline

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