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What Is Klippel-Feil Syndrome?

Medically Reviewed by Mahammad Juber, MD on September 20, 2022

Klippel-Feil syndrome (KFS) is a disorder that affects development of the bones in your spine. Symptoms, causes, and treatment for this condition vary, and research on it is ongoing.

Klippel-Feil Syndrome Description

What is Klippel-Feil syndrome? This bone disorder happens when two or more of the spinal bones in your neck are abnormally joined. This condition is present from birth, although mild cases might only be diagnosed later in life.

Your backbone is composed of 33 bones of varying shapes, also known as vertebrae, with each bone falling into a different category. Your first seven vertebrae are part of the cervical vertebrae group, and this is the section that Klippel-Feil syndrome usually affects.

As a result of this bone fusion, there a few hallmark characteristics of people with Klippel-Feil syndrome:

  • A short neck, resulting in subtle asymmetry in your face
  • A very low hairline on the back of your head
  • A limited range of motion in your neck and possibly your back

Symptoms of Klippel-Feil Syndrome

Klippel-Feil syndrome symptoms vary depending on how severe your condition is. Your fused vertebrae keep you from moving your neck and back fully, and you may experience a range of other symptoms like:

  • Chronic headaches
  • Chronic muscle pain
  • Trouble seeing
  • Cleft palate
  • Abnormal reproductive organs or kidneys
  • Heart abnormalities
  • Lung defects and accompanying trouble breathing
  • Discrepancy in the length of your limbs and accompanying trouble with your hips or knees
  • Underdeveloped shoulder blades
  • Missing ribs or rib defects
  • Webbed fingers or toes
  • Exposed portion of the spinal cord
  • A dimple or patch of hair over the affected area of the spine
  • Weakness in the legs
  • Incontinence
  • Torticollis, which occurs when your head is tilted one way and your chin tilts the opposite way
  • Respiratory issues
  • Synkinesia: when one of your hands involuntarily mirrors the movement of your other hand

The more fused vertebrae you have, the more pain you’re likely to be in. Keep in mind that signs and symptoms of Klippel-Feil syndrome vary, though, so you should discuss concerns with your healthcare provider for information personalized to your condition.

Diagnosing Klippel-Feil Syndrome

Klippel-Feil syndrome is often diagnosed at birth after a clinical evaluation. Other specialized tests might then be needed to diagnose hearing issues, eye defects, kidney conditions, congenital heart conditions, and more. 

Your healthcare provider might order any of the following tests:

  • An MRI to detect interspaces between the vertebrae, assess how severe the fusions are, and evaluate how the spinal cord may be affected
  • An X-Ray for a detailed look at the bones in your spine, neck, and shoulder blades
  • A CT scan to combine X-ray images with computer technology and create cross-sectioned images of your body
  • Genetic testing to identify markers in your DNA
  • EOS imaging to produce 3-D images similar to a CT scan

Klippel-Feil syndrome is most often detected in babies, so an ultrasound performed on the mother of a child with this condition can provide early insight.

Causes of Klippel-Feil Syndrome

When a baby is developing, embryonic tissue must divide and develop into vertebrae. KFS happens when, for whatever reason, the tissue fails to appropriately segment itself.

Klippel-Feil syndrome causes aren’t certain. It can happen on its own or alongside another syndrome. For many people, Flippel-Feil syndrome is a random occurrence and has no clear cause, though in other cases it could be inherited.

It’s most likely that Klippel-Feil syndrome is a multifactorial condition, meaning that a number of factors come together to cause it, including genetics. Even when this condition is inherited, though, it can be caused by a number of different genetic defects. 

Risk Factors for Klippel-Feil Syndrome

This condition happens to 1 in 40,000 newborns globally and is more likely to affect females than males. 65% of people born with Klippel-Feil syndrome are female.

Treating Klippel-Feil Syndrome

Currently, there isn’t a cure for Klippel-Feil syndrome. Your symptoms and the unique makeup of your vertebrae will determine your Klippel-Feil syndrome treatment. You’ll likely need to meet with a team of healthcare providers with complementary specializations, including:

  • Pediatricians
  • Surgeons
  • Orthopedists
  • Neurologists
  • Cardiologists
  • Audiologists
  • Ophthalmologists

If you have mild Klippel-Feil treatment, you might need a cervical collar, a brace, non-steroidal anti-inflammatory drugs, and pain medication. More severe cases could require surgery for skeletal, ocular, renal, cardiac, or auditory repairs.

You should stay in close contact with your healthcare provider(s) even as you grow up. Follow-up visits could happen annually or more often and could consist of diagnostic testing and close monitoring of new symptoms.

Disorders Related to Klippel-Feil Syndrome

Sometimes, Klippel-Feil syndrome happens as a result of another condition, including hemifacial microsomia or Wildervanck syndrome. You may have the symptoms and features of Klippel-Feil syndrome in addition to those of your other disorder.

If you have Klippel-Feil syndrome, it’s common to also develop scoliosis, a curvature in your spine, because of how the vertebrae form. With time, your spinal canal could narrow as a result of your Klippel-Feil syndrome. This condition, spinal stenosis, can compress and further damage your spinal cord. It’s possible that abnormalities in your spinal nerve could result in strange sensations or unintentional body movements.

You are also at risk for osteoarthritis, a joint disorder that develops in the areas where your bone is fused, and cervical dystonia: involuntary, painful tensing of your neck muscles.

Living With Klippel-Feil Syndrome

Your spine will be extra sensitive to injury or trauma. If you’re in a car accident or experience a fall, your already existing problems will be aggravated. Don’t take part in activities that could injure or traumatize your cervical vertebrae.

The outlook for people with Klippel-Feil syndrome is positive, though, especially when it’s diagnosed early on in life. Consistent monitoring and therapy will go a long way in facilitating your desired lifestyle.

Show Sources

SOURCES:

Children’s Hospital of Philadelphia: “Klippel-Feil Syndrome.”

MedlinePlus: “Klippel-Feil syndrome.”

NORD: “Klippel-Feil Syndrome.”

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