Pediatric Klippel-Feil Syndrome

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
• Additionalneural 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.