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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 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.
Klippel-Feil syndrome was origionally reported in 1884. It was later described by doctors Maurice Klippel and André Feil in 1912.
What are the signs and symptoms of 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 Klippel-Feil syndrome?
The cervical vertebrae fuse during the child’s development in their mother’s womb. The exact cause is unknown.