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)
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)
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.