Klippel-Feil syndrome

Klippel-Feil syndrome is a rare disorder where two or more vertebrae in the neck are fused together from birth. People living with Klippel-Feil syndrome may have a short neck limited movement, and pain.

The most common symptoms of Klippel-Feil syndrome include:

• Short neck and the potential for a low hairline at the back of the head
• Limited flexibility and movement, affecting the face, neck, upper body, and back
• Pain—The fused vertebrae can cause nerve damage and pain in the head, neck, or back
• Hearing loss—Sound signals have a hard time getting to the right part of the ear or brain

People with a certain genetic mutation are at higher risk of developing the disorder. Mutations in the GDF6 (growth differentiation factor 6) or GDF3 (growth differentiation factor 3) genes can cause the disorder.

Doctors usually diagnose Klippel-Feil syndrome at or near birth through observation. Tests may be performed to learn if the disorder is mild or severe.

Doctors currently treat Klippel-Feil syndrome with surgery to correct the neck bones. You may see many types of doctors to treat other symptoms.

People with Klippel-Feil syndrome should avoid activities that can injure the neck. It is possible for people with Klippel-Feil syndrome to live normal lives with proper treatment and care. The outlook depends on the severity of the case and on the number of related conditions a person has.

How can I or my loved one help improve care for people with Klippel-Feil syndrome?

Unfortunately, Klippel-Feil syndrome a rare disease and most cases happen without a known cause. This means there is often not much information known about the disorder. Doctors and researchers do not see enough patients with Klippel-Feil syndrome. This makes it hard to learn from them through observations or large studies.

Consider participating in a clinical trial so clinicians and scientists can learn more about the Klippel-Feil syndrome and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with Klippel-Feil syndrome at Clinicaltrials.gov.

Where can I find more information about Klippel-Feil syndrome?

More information may be available through the following resource:

Genetic and Rare Diseases (GARD) Information Center
Phone: 888-205-2311

Content source: https://www.ninds.nih.gov/health-information/disorders/klippel-feil-syndrome Accessed July 13, 2023.

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