There is a rare disorder that affects your spine. If you have KFS, you will have two fused spine bones in your neck. This can result in a short neck, low hairline, and headaches. You may not have every symptom.

KFS can happen on its own or with other genetic conditions. It is congenital, meaning it is present in the womb and at birth.

There is no cure for KFS and treatment consists of symptom management. Treatment plans can include physical therapy, medications, or surgery if you have a lot of symptoms.

We will show you how experts know about how and why KFS occurs, what treatment and management options are available, and what the consequences are.

What is the life expectancy for people with Klippel-Feil syndrome?

Many people with mild KFS have a normal life expectancy. However, KFS is associated with Congenital heart disease is a congenital disease., which affects around 4 to 14 percent of those with the condition, and other disorders that could potentially impact life expectancy.

In KFS, your cervical (neck) vertebrae don’t develop properly during the early weeks of fetal development, causing congenital fusion. Scientists are still investigating why this occurs, as the exact cause of KFS is unknown. But researchers believe that KFS is likely caused by a combination of genetic and environmental factors.

KFS is tied to genes that are inherited, but most people don’t inherited it, meaning it doesn’t usually run in families. Pioneering research from 1997 estimated that KFS occurs in around 1 in 40,000 to 1 in 42,000 births.

When KFS is present in multiple people who are related, more recent research from 2013 and 2016 has linked its appearance to mutations in the following genes, among others:

  • Growth differentiation factor 6 (dominant)
  • Growth differentiation factor 3(dominant)
  • Mesenchyme homeobox 1 (recessive)
  • Ripply transcriptional repressor 2 (recessive)

When a gene is dominant, you can inherit it if only one of your parents has it. When a gene is recessive, both of your parents need to have it for you to inherit it.

All of the above genes play some role in the somite segmentation process. This means they’re involved in the development of vertebral bones in the spinal cord.

KFS is divided into three categories, mildest to most severe. The degree of fusion between the spine and the genetics of the person have been the ways in which these types are defined.

If categorized by the extent of congenital fusion, the types can be organized like this:

  • Type 1: Single-level fusion of a cervical segment. This means fusion of one neck vertebrae to another.
  • Type 2: Multiple fusions of cervical segments. These are noncontiguous, meaning they aren’t next to each other.
  • Type 3: Multiple fusions of cervical segments. These are contiguous, meaning they’re next to each other.

Types 2 and 3 are associated with more limited mobility, spinal cord compression (myelopathy), and pinching of the spinal cord’s root nerve in your lower back (radiculopathy). This can cause pain, stiffness, weakness, and numbness in your limbs.

Associated conditions

KFS is associated with a lot of conditions. These include:

  • The disease of the kidneys.
  • Hearing issues
  • Congenital heart disease is a congenital disease.
  • There are brainstem abnormality.
  • There is a congenital neck problem.
  • Atlantoaxial instability can be found.

The severity of symptoms can vary. Some people with the disorder have no symptoms at all. Others have symptoms that affect their quality of life.

The KFS classic symptom is called atriad.

  • An abnormal neck.
  • restricted head and neck movement.
  • A low head height.

Doctors used to require all of these signs to be present to diagnose KFS. Experts agree that people with KFS can only include some of the triad among other signs.

According to the National Institutes of Health and the National Organization for Rare Disorders, clinical manifestations and symptoms of KFS can include among others:

The treatment for KFS depends on the symptoms you have. Your treatment plan might change over time to address any new symptoms you have.

There are treatments for KFS.

  • Physical therapy: Can help strengthen the muscles around your spine and can relieve pain. A physical therapist can also recommend a neck brace, supportive pillows, and other noninvasive pain relief methods you can use at home.
  • Surgery: Can be used to correct instability or constriction in your spinal cord. The exact surgery depends on factors such as how many spinal bones are fused together and how the KFS has impacted the other bones in your spine, shoulders, and upper body. For instance, implanting rods can help stabilize your spine, while spinal fusion can help straighten your spine.
  • Medication: You might be recommended or prescribed medication to help manage your skeletal, muscle, or nerve pain due to KFS. This could include antidepressants, muscle relaxers, nonsteroidal anti-inflammatory drugs, or corticosteroids.

KFS is usually visible at birth. Confirming a diagnosis can be done with radiology, which includes an imaging test such as an X-ray or MRI. These types of imaging will picture your spinal bones clearly, so doctors can see if any are fused together in your neck or upper back.

“If you don’t have any symptoms, an X-ray or an MRI can be used to identify KFS.”

“KFS affects the bones in your neck. If you have KFS, you will have two bones fused together. Some people don’t have any visible signs or symptoms from this. KFS can lead to a wide variety of lifelong symptoms, including limited mobility, nerve pain, and more.”

The severity of your symptoms affects the treatment you receive. Pain can be managed with medication, physical therapy, and even surgery.