This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Klippel Feil syndrome (KFS) is a condition affecting the development of the bones in the spine. People with KFS are born with abnormal fusion of at least two spinal bones (vertebrae) in the neck. Common features may include a short neck, low hairline at the back of the head, and restricted movement of the upper spine. Some people with KFS have no symptoms. Others may have frequent headaches, back and neck pain, and other nerve issues. People with KFS are at risk for severe spinal injury. KFS can occur along with other types of birth defects, and sometimes KFS occurs as a feature of another disorder or syndrome. The cause of most cases of KFS is unknown, but sometimes it is caused by genetic alterations (mutations) in one of several different genes. This condition is diagnosed based on a clinical examination, the symptoms, and imaging studies. Treatment is symptomatic and may include medications, surgery, and/or physical therapy.
For more information, visit GARD.