5 Things You Should Know About Klippel Feil Syndrome

Klippel Feil syndrome (KFS) is a rare disease that affects the development of bones in the spine. According to the National Institute of Health, it’s a congenital condition consisting of an abnormal fusion of at least two spinal bones.

People with Klippel Feil syndrome often have a shorter neck, a low hairline or restricted movement of the upper back. Experts say it is usually not hereditary and there is no known cause, however, some families may have a genetic alteration of the GDF6, GDF3 or MEOX1 gene.

Diagnosis of Klippel Feil syndrome involves a series of imaging tests that can include X-rays, an MRI or CT scan. Studies suggest that KFS occurs in 1 in 41,000 people, although another study showed the incidence could be nearly double.

Our contributor, Sharon Rose Nissley, shared her story after doctors diagnosed her with the condition at the age of 38. Nissley said she deals with frequent pain that can make it hard to sit or stand. She emphasizes there’s a lack of understanding about the syndrome due to its rarity and consequently lack of research and treatments.

“I couldn’t find physicians who understood my needs or the urgency to ‘fix’ the issues,” Nissley wrote. “I soon learned nobody else I talked to with KFS could either. Parents and patients were lost and lonely trying to find relief and answers.”

Here are five things you should know about Klippel Feil syndrome:

1. The condition was given its name in 1912.

Klippel Feil syndrome was named after doctors Maurice Klippel and André Feil who first described it in early 20th century medical literature. Feil was a disability advocate during a time when people with physical differences were shunned as “a consequence of sinful behavior or a reversion to a primitive state.” His 1919 medical school thesis advocated for treating people with disabilities as the full human beings they are.

2. The syndrome can cause pain and physical differences.

Health experts say symptoms and signs of Klippel Feil syndrome can include a limited range of motion in the neck and pain. Physical characteristics can also be present such as a shorter neck, lower hairline, shoulder blade differences, and scoliosis, which causes the spine to curve sideways. People with KFS can also have conditions involving the central nervous system like spina bifida. In 25 to 50% of known cases, people are also hard of hearing.

Sometimes, KFS can be associated with heart defects, in particular ventricular septal defects which are characterized by an abnormal opening in the septum that separates the two lower chambers of the heart.

3. Some people with KFS don’t have symptoms at all.

Researchers have determined that it’s possible that patients who present with the known signs and symptoms of the rare condition may only represent one type of the syndrome. It’s believed those with the typical symptoms make up less than 50% of those affected. There are three total types of KFS. That is why one study suggests the true incidence of Klippel Feil syndrome could be closer to 1 in 21,000.

4. A KFS diagnosis isn’t always made at birth.

As a congenital condition, KFS can sometimes be identified in utero or shortly after birth. If a doctor suspects Klippel Feil syndrome, they will take a thorough family and medical history along with performing an examination of the child. Doctors may also order genetic testing, take X-rays, perform an MRI, CT scan or EOS imaging, or do an ultrasound to check a baby’s organs.

However, sometimes KFS isn’t diagnosed for years if a child only has slight symptoms. For these people, they may only be diagnosed later in life until an accident or injury causes pain in the spine that leads to further exploration.

5. There is no cure for KMS, but treatment focuses on managing symptoms.

Treatment options for Klippel Feil syndrome vary by patient and in the case of children, their needs may change as they grow and the impacts of the syndrome become more obvious. Treatment can include pain management, surgery, physical therapy, and visits with specialists focused on treating other aspects of the disease such as heart problems and deafness.