Klippel-Feil syndrome

Klippel-Feil syndrome is a congenital musculoskeletal condition where at least two of the neck vertebrae are fused together. This fusion can lead to a short neck, a low hairline at the back of the head, and reduced mobility of the upper spine. In some cases, the syndrome is seen with other disorders or physical differences, with symptoms varying from person to person.

People with Klippel-Feil syndrome may have a short neck, low hairline, and restricted movement in the upper spine. They might experience chronic headaches and pain in the neck or back. Some individuals may also have issues affecting other parts of the body.

Klippel-Feil syndrome can be caused by mutations in genes such as GDF6, GDF3, or MEOX1. In some cases the condition is inherited in an autosomal dominant pattern, while in others it may be inherited in an autosomal recessive pattern. These genetic changes affect the normal development of the cervical vertebrae.

Treatment for Klippel-Feil syndrome is aimed at managing symptoms. People with this condition may be treated with medications, surgery, and physical therapy to help manage pain and maintain mobility.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.