Pediatric Klippel-Feil Syndrome

Pediatric Klippel-Feil Syndrome

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Summary

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

Expanded overview

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.

Causes

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

Symptoms

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

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