Klippel-Feil syndrome

What is Klippel-Feil Syndrome?
Klippel-Feil Syndrome is a rare disorder 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 (a birth defect of the spine), 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.

Is there any treatment?
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.

What is the prognosis?
The prognosis for most individuals with Klippel-Feil Syndrome is good if the disorder is treated early and appropriately. Activities that can injure the neck should be avoided.

What research is being done?
Research supported by the NINDS includes studies to understand how the brain and nervous system normally develop and function and how they are affected by disease and trauma. These studies contribute to a greater understanding of birth defects such as Klippel-Feil Syndrome and open promising new avenues for treatment.

Select this link to view a list of studies currently seeking patients.

Organizations
March of Dimes Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
http://www.marchofdimes.com
914-428-7100, 888-MODIMES (663-4637)

National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT 06813-1968
http://www.rarediseases.org
203-744-0100, Voice Mail 800-999-NORD (6673)

National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
National Institutes of Health, DHHS
31 Center Dr., Rm. 4C02 MSC 2350
Bethesda, MD 20892-2350
http://www.niams.nih.gov
301-496-8190, 877-22-NIAMS (226-4267)

This information was developed by the National Institute of Neurological Disorders and Stroke.

National Institute of Neurological Disorders and Stroke. NINDS Klippel-Feil Syndrome Information Page. Available at: http://www.ninds.nih.gov/disorders/klippel_feil/klippel_feil.htm. Last accessed January 30, 2014.

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