Klippel-Feil Syndrome: Short Neck and Congenital Cervical Spine Disorder

Klippel-Feil syndrome (KFS) occurs when two or more vertebrae in your neck (cervical spine) are abnormally fused together. KFS is a congenital disorder, which means you are born with it. KFS goes by several other names, including cervical vertebral fusion syndrome, congenital dystrophia brevicollis, and Klippel-Feil deformity.

KFS produces 3 hallmark features:

1. A short neck, which can cause a small difference of appearance between the left and right sides of your face
2. A low hairline at the back of your head
3. Limited ability to bend and twist your neck

While most people with KFS have at least one of these features, it’s less common for a person to experience all 3 of them.
Young child with Klippel-Feil syndrome. By Noble, Frawley [Public domain], via Wikimedia Commons.Facts About Klippel-Feil Syndrome

• KFS is a rare spinal disorder: Researchers estimate it occurs in 1 in 40,000 to 42,000 newborns worldwide.
• Females develop the disorder slightly more than males.
• KFS is usually diagnosed in children, though it sometimes doesn’t show symptoms until later in life.

Klippel-Feil Syndrome Symptoms and Complications
While short neck, low back-of-head hairline, and limited range of motion in the neck are the three classic characteristics of KFS, people with the disorder may experience several other symptoms and complications.

Like most disorders, KFS symptoms vary from person to person. A person with two fused vertebrae will likely experience fewer and less severe symptoms than someone who has several fused cervical vertebrae.

Common symptoms of KFS include:

• Headache
• Neck and back pain
• Scoliosis
• Cervical dystonia, or spasmodic torticollis (uncontrollable neck muscle contractions)
• Central nervous system disorders, such as Chiari malformation, spina bifida, and syringomyelia
• Cervical spinal stenosis
• Spondylosis, or spinal osteoarthritis
• Neurological symptoms, such as numbness, burning, tingling, and weakness, throughout your head and spine
• Non-spine skeletal defects, including one shoulder blade sitting higher than the other (Sprengel deformity), and arms and legs that are not equal length
• Abnormalities affecting other areas and systems in the body, including reproductive, urinary, respiratory (breathing problems), cardiovascular, face (cleft palate), ears (hearing difficulties), and eyes

What Causes Klippel-Feil Syndrome?
Researchers are still learning about KFS, and they have yet to pinpoint its exact cause(s). But the medical community generally believes that the disorder begins in the embryotic stage of human development, when tissue forms into distinct vertebrae. In the case of KFS, this tissue does not separate correctly.

You can develop KFS for unknown reasons, or sporadically. Or, you may inherit it. KFS has a genetic tie, and multiple family members may be born with the disorder.

KFS has been linked with a mutation in 3 genes that play a role in bone development: GDF6, GDF3, and MEOX1.

• The GDF6 gene is critical to bone and joint formation.
• The GDF3 gene is also linked to bone formation.
• The MEOX1 gene is integral to the process of separating vertebrae during the embryonic stage of human development.

Sometimes, KFS develops because of a separate condition. In those cases, KFS is caused by the genetic changes associated with the other condition.

How Doctors Diagnose Klippel-Feil Syndrome
Diagnosing KFS usually involves a combination of physical and neurological exam and imaging tests.

Although KFS is a spinal disorder, it can affect areas beyond the spine. During a physical exam, your doctor will determine the extent the condition has on your whole body. A KFS physical exam may include:

• A chest exam, including an assessment of your chest wall
• A hearing test
• Lab tests to identify organ function abnormalities

Your doctor will also order imaging exams to confirm KFS. X-ray can show whether your cervical vertebrae are fused, but your doctor may x-ray your entire spine to determine if other spinal regions are affected by the condition.

If your doctor suspects spinal stenosis may be associated with your condition, he or she may also order a magnetic resonance imaging (MRI) scan in addition to x-ray. While x-ray is an excellent first-line imaging test to illuminate your bones, it will not detail soft tissues like nerves. An MRI can show the spinal nerve passageway narrowing that is the classic feature of spinal stenosis.

In addition to spinal imaging, your doctor may refer you to other medical specialists for further testing based on your symptoms. Your medical team may include your primary care physician, neurosurgeon or orthopaedic spine surgeon, urologist, cardiologist, and audiologist.

How Doctors Treat Klippel-Feil Syndrome
Though KFS has no known cure, your doctor has several options—both non-surgical and surgical—to manage pain and help prevent the disorder from worsening. The treatment plan your medical team crafts is specific to your medical history, symptoms, and associated complications (such as spinal deformity).

If your symptoms are not severe, your doctor may start you on a regimen of non-surgical spine therapies that include:

• Cervical spinal bracing
• Physical therapy
• Medications to manage pain, including non-steroidal anti-inflammatory drugs (NSAIDs)
• Spinal traction

As an added precaution, your doctor may recommend that you avoid contact sports and activities that put you at risk for injuring your neck.

For some people with KFS, their symptoms may warrant spine surgery to reduce pain and prevent further complications. There are many different surgical procedures to treat cervical conditions related to Klippel-Feil syndrome. The procedure your spine surgeon recommends is based on your symptoms and diagnosis.

The decision to undergo spine surgery is one that you and your spine surgeon will make together based on your personal risks and potential benefits. In general, though, the following symptoms and conditions may warrant surgical treatment:

• Neurological symptoms, such as numbness, burning, and weakness
• Vertebral instability in your neck or in the craniocervical region
• Cervical myelopathy and spinal cord compression
• Cases of scoliosis at risk of progression
• Pain that isn’t responding to non-surgical treatment

If your symptoms are nerve-related (eg, spinal stenosis), your spine surgeon may recommend a spinal decompression procedure. Decompression procedures, such as a laminectomy or laminotomy, relieve pressure on your spinal nerves, and may reduce your pain and prevent damage to your spinal cord. Your surgeon may perform the decompression alone, or he or she may also perform a spinal fusion to add stability to your spine.

If you have scoliosis associated with KFS, your doctor may perform a spinal fusion to prevent your scoliotic curve from getting worse.

For many, treating KFS is a journey and not a destination. Keeping in close contact with your medical team, attending regular follow-up appointments, and adhering to your treatment plan is a life-long process. However, it often leads to healthy, long-term outcomes—even if you have significant complications associated with your disorder.

Klippel-Feil Syndrome: The Long-Term Outlook
While all people with KFS have some degree of cervical vertebral fusion, the effect it has on daily life varies greatly. If you have minimal bone fusion, you may find that your symptoms don’t interfere with your active lifestyle. But if you have associated spinal deformity or other complications, you may require careful observation by your spine specialist and/or other medical professionals. Regular appointments with your medical team will ensure you’re preventing any additional problems early on, so you can enjoy a good quality of life.