Klippel-Feil syndrome

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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 (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. 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.

The 18th Dynasty Egyptian pharaoh Tutankhamun is believed to have suffered from Klippel-Feil syndrome.

[edit] References

This article incorporates information in the public domain prepared by the National Institute of Neurological Disorders and Stroke.

1. Feil A. L'absence et la diminuaton des vertebres cervicales (etude cliniqueet pathogenique); le syndrome dereduction numerique cervicales. Theses de Paris; 1919.

2. Guille JT, Miller A, Bowen JR, Forlin E, Caro PA. The natural history of Klippel-Feil syndrome: clinical, roentgenographic, and magnetic resonance imaging findings at adulthood. J Pediatr Orthop. Sep-Oct 1995;15(5):617-626.

3. Hensinger RN, Lang JE, MacEwen GD. Klippel-Feil syndrome. A constellation of associated anamolies. J Bone Joint Surg [Am]. 1974;56:1246-1253.

4. 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.

5. Pizzutillo PD, Woods M, Nicholson L, MacEwen GD. Risk factors in Klippel-Feil syndrome. Spine. Sep 15 1994;19(18):2110-2116.

6. Samartzis D, Kalluri P, Herman J, Lubicky JP, Shen FH. Superior odontoid migration in the Klippel-Feil patient. Eur Spine J. Dec 15 2006 (Epub ahead of print).

7. Samartzis D, Lubicky JP, Herman J, Kalluri P, Shen FH. Symptomatic cervical disc herniation in a pediatric Klippel-Feil patient: the risk of neural injury associated with extensive congenitally fused vertebrae and a hypermobile segment. Spine. May 15 2006;31(11):E335-338.

8. Samartzis D, Lubicky JP, Herman J, Shen FH. Faces of spine care: from advanced imaging. Severe thoracic kyphoscoliosis in a Klippel-Feil patient with complete cervical spine fusion and deformity--primum non nocere. Spine J. Nov-Dec 2006;6(6):723-724.

9. Samartzis D, Lubicky JP, Herman J, Shen FH. Faces of spine care: from the clinic and imaging suite. Klippel-Feil syndrome and associated abnormalities: the necessity for a multidisciplinary approach in patient management. Spine J. Jan-Feb 2007;7(1):135-137.

10. 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.

11. Shen FH, Samartzis D, Herman J, Lubicky JP. Radiographic assessment of segmental motion at the atlantoaxial junction in the Klippel-Feil patient. Spine. Jan 15 2006;31(2):171-177.