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NINDS Disorders is an index of neurological conditions provided by the National Institute of Neurological Disorders and Stroke. This valuable tool offers detailed descriptions, facts on treatment and prognosis, and patient organization contact information for over 500 identified neurological disorders.

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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.

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.

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.

Research

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.

View a list of studies currently seeking patients.

View more studies on this condition.

Organizations

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
Tel: 301-496-8190 877-22-NIAMS (226-4267)

National Organization for Rare Disorders (NORD)

Federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. Committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.

55 Kenosia Avenue
Danbury, CT 06810
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291

March of Dimes

Works to improve the health of babies by preventing birth defects and infant mortality through programs of research, community services, education, and advocacy.

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: 914-997-4488 888-MODIMES (663-4637)
Fax: 914-428-8203

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