Klippel-Feil Syndrome
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What is Klippel-Feil Syndrome?Is there any treatment?What is the prognosis?What research is being done?OrganizationsWhat 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
Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
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or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice
on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined
that patient or is familiar with that patient's medical history.
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Last updated February 13, 2007
