Pediatric Klippel-Feil Syndrome

Klippel-Feil syndrome is a genetic (present at birth) condition where two or more cervical vertebrae (spinal bones of the neck) are fused.

What is Pediatric Klippel-Feil Syndrome?

The fused vertebrae that occur due to Klippel-Feil syndrome cause three distinguishing features, including a limited range of motion, low hairline at the back of the head and a short neck. Children with Klippel-Feil syndrome typically have one or two of the features, but some can have all three.

What are the signs and symptoms of Pediatric Klippel-Feil Syndrome?

Symptoms of Klippel-Feil syndrome vary according to the severity and how many vertebrae are fused. Symptoms can include:

  • Abnormal kidney or reproductive organs like ectopic ureter
  • Additional neural tube defects (birth defects affecting the brain, spine or spinal cord)
  • Additional vertebrae anomalies (areas of damage or unusual development of the spine), including vertebrae fusion below the neck
  • Cervical dystonia (involuntary tensing of the neck muscles)
  • Chronic headaches or migraines
  • Cleft palate
  • Facial asymmetry (face is uneven; right or left side can have a different size or shape)
  • Functional limb-length discrepancy (legs or arms aren’t the same length)
  • Hearing or vision difficulties
  • Heart or lung defects
  • Involuntary movements (myoclonus)
  • Muscle pain in the neck and back
  • Nerve damage to the back, head or neck
  • Osteoarthritis (inflammation of the joint)
  • Scoliosis (curved spine)
  • Shorter height
  • Shoulder blades are abnormally formed and found higher on back
  • Spinal stenosis (narrowing of the spinal column), which can damage or compress the spinal cord
  • Unusual sensations throughout the body

What are the causes of Pediatric Klippel-Feil Syndrome?

The cervical vertebrae fuse during the child’s development in their mother’s womb. The exact cause is unknown.