KFS Awareness Day Date in the current year: August 6, 2025

Klippel-Feil syndrome (KFS), also known as cervical vertebral fusion syndrome, is characterized by the abnormal fusion of two or more vertebrae in the neck. The disorder was named after the French physicians Maurice Klippel and André Feil, who first described it in 1912.

KFS is a rare disorder associated with mutations in the GDF6, GDF3, and MEOX1 genes, but the exact mechanism of its development is unclear. Some of these mutations are dominant, meaning one copy of the mutated gene is enough for a person to develop the disorder. Others are recessive, meaning both copies of the gene must have the mutation. However, only some cases of KFS are genetic; many are not, and their cause is unclear. The exact prevalence of KFS is unknown, but it is estimated to affect approximately one in 40,000 to 42,000 newborns. Females are affected slightly more often than males.

Fused vertebrae limit patients’ ability to move their necks and cause a shortened neck and a low hairline on the back of the head. Some patients experience frequent headaches, neck and/or back pain, and nerve pain that can spread into the arms or legs. In serious cases, fused vertebrae can result in nerve damage.

Klippel-Feil syndrome is difficult to diagnose because patients with KFS often have other abnormalities that draw attention away from the neck problems. These abnormalities may include spina bifida, scoliosis, short stature, cleft palate, heart defects, dental problems, respiratory problems, rib deformities, Sprengel’s deformity (one shoulder blade sitting higher than the other), kidney anomalies, and hearing problems or deafness.

Klippel-Feil syndrome is treated symptomatically. Treatment options may include physical therapy, massage, and cervical collars or braces to improve posture and prevent secondary deformities. Medications may be prescribed to relieve pain and inflammation. If conservative treatment is ineffective, spinal surgery may provide relief and prevent complications. However, the majority of patients do not require surgery. It is also important to treat associated conditions, which can be more severe than KFS.

Patients with KFS have a good prognosis if the syndrome is diagnosed early and treated promptly and appropriately. Patients should avoid activities that can strain or injure the neck to prevent further damage. However, life expectancy may be reduced in patients with KFS due to associated diseases. For instance, approximately a quarter of patients have heart defects similar to those seen in people with gigantism, which often leads to a shorter life expectancy.

The Klippel-Feil Syndrome Alliance launched KFS Awareness Day in 2012, exactly one hundred years after the syndrome was first described. The day’s main goals are to raise awareness of the condition among medical professionals and the general public, as well as to advocate for better diagnosis and care.