|OMIM||118100 214300 148900|
Klippel-Feil syndrome is a rare disorder, initially reported in 1912 by Maurice Klippel and Andre Feil from France, characterized by the congenital fusion of any 2 of the 7 cervical vertebrae.
It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development.
The most common signs of the disorder are short neck, low hairline at the back of the head, and restricted mobility of the upper spine. Associated abnormalities may include scoliosis (curvature of the spine), 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.
A classification scheme for Klippel-Feil syndrome was proposed in 1919 by Andre Feil, which accounted for cervical, thoracic, and lumbar spine malformations. 
However, recently, Dino Samartzis and colleagues in 2006 proposed 3 classification-types that specifically addressed the cervical spine anomalies and their associated cervical spine-related symptoms, with additional elaboration on various time-dependent factors regarding this syndrome. 
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.
The prognosis for most individuals with KFS is good if the disorder is treated early and appropriately. Activities that can injure the neck should be avoided. Anomalies associated with the syndrome can be fatal if not treated, or if found too late to be treatable.
The 18th Dynasty Egyptian pharaoh Tutankhamun is believed by some to have suffered from Klippel-Feil syndrome, though others dispute this claim.
- ↑ Klippel M, Feil A. Un cas d'absence des vertebres cervicales. Avec cage thoracique remontant jusqu'a la base du crane (cage thoracique cervicale). Nouv Iconog Salpetriere. 1912;25:223-250.
- ↑ Feil A. L'absence et la diminuaton des vertebres cervicales (etude cliniqueet pathogenique); le syndrome dereduction numerique cervicales. Theses de Paris; 1919.
- ↑ Samartzis DD, Herman J, Lubicky JP, Shen FH. Classification of congenitally fused cervical patterns in Klippel-Feil patients: epidemiology and role in the development of cervical spine-related symptoms. Spine. Oct 1 2006;31(21):E798-804.
- ↑ "Tutankhamun shows his face 80 years after tomb is opened". Retrieved 2007-07-12. Text " Egypt " ignored (help); Text " Africa And Indian Ocean " ignored (help); Text " News " ignored (help); Text " Telegraph " ignored (help); Text " International News " ignored (help)
- ↑ Boyer RS, Rodin EA, Grey TC, Connolly RC (2003). "The skull and cervical spine radiographs of Tutankhamen: a critical appraisal". AJNR. American journal of neuroradiology. 24 (6): 1142–7. PMID 12812942.
This article incorporates information in the public domain prepared by the National Institute of Neurological Disorders and Stroke.
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