Klippel Feil syndrome (KFS) is a rare disease that affects the development of bones in the spine. According to the National Institute of Health, it’s a congenital condition consisting of an abnormal fusion of at least two spinal bones.
People with Klippel Feil syndrome often have a shorter neck, a low hairline or restricted movement of the upper back. Experts say it is usually not hereditary and there is no known cause, however, some families may have a genetic alteration of the GDF6, GDF3 or MEOX1 gene.
Diagnosis of Klippel Feil syndrome involves a series of imaging tests that can include X-rays, an MRI or CT scan. Studies suggest that KFS occurs in 1 in 41,000 people, although another study showed the incidence could be nearly double.
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