Klippel Feil syndrome

In 1912, Klippel and Feil (1) first reported on a patient with a short neck, a low posterior hairline, and severe restriction of neck movements due to complete fusion of the cervical spine, the classic clinical triad which is the hallmark of Klippel-Feil syndrome (KFS). It is estimated to occur in 1 in 40,000 to 42,000 newborns worldwide. Mutations in the GDF6 and GDF3 genes can cause KFS (2). But in some people there are no identified mutations in the GDF6 or GDF3 genes and the etiology remains unknown. Mutations in MEOX 1 have been found to occur in association with Klippel-Feil syndrome (3).