Klippel-Feil syndrome - Genetics Home Reference
Klippel-Feil syndrome
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Reviewed December 2011
What is Klippel-Feil syndrome?
Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae), which is present from birth. Three major features result from this abnormality: a short neck, a limited range of motion in the neck, and a low hairline at the back of the head. Most affected people have one or two of these characteristic features. Less than half of all individuals with Klippel-Feil syndrome have all three classic features of this condition.
In people with Klippel-Feil syndrome, the fused vertebrae can cause a limited range of movement of the neck and back as well as pain in these areas. The fused vertebrae can also lead to nerve damage in the head, neck, or back. Over time, individuals with Klippel-Feil syndrome can develop a narrowing of the spinal canal (spinal stenosis) in the neck, which can compress and damage the spinal cord. Rarely, spinal nerve abnormalities may cause involuntary arm movements in people with Klippel-Feil syndrome. Often the vertebral problems in Klippel-Feil syndrome do not cause health problems until aggravated by a spinal injury, such as a fall or car accident. Affected individuals may develop joint pain (osteoarthritis) around the areas of fused bone. Many people with Klippel-Feil syndrome have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae.
People with Klippel-Feil syndrome may have other features in addition to their spine abnormalities. Some people with this condition have hearing difficulties, genitourinary abnormalities such as malformed kidneys, a type of birth defect that occurs during the development of the brain and spinal cord (neural tube defect), an opening in the roof of the mouth (cleft palate), or heart abnormalities. Affected individuals may have underdeveloped shoulder blades that sit abnormally high on the back, a condition called Sprengel deformity.
In people with Klippel-Feil syndrome, the fused vertebrae can cause a limited range of movement of the neck and back as well as pain in these areas. The fused vertebrae can also lead to nerve damage in the head, neck, or back. Over time, individuals with Klippel-Feil syndrome can develop a narrowing of the spinal canal (spinal stenosis) in the neck, which can compress and damage the spinal cord. Rarely, spinal nerve abnormalities may cause involuntary arm movements in people with Klippel-Feil syndrome. Often the vertebral problems in Klippel-Feil syndrome do not cause health problems until aggravated by a spinal injury, such as a fall or car accident. Affected individuals may develop joint pain (osteoarthritis) around the areas of fused bone. Many people with Klippel-Feil syndrome have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae.
People with Klippel-Feil syndrome may have other features in addition to their spine abnormalities. Some people with this condition have hearing difficulties, genitourinary abnormalities such as malformed kidneys, a type of birth defect that occurs during the development of the brain and spinal cord (neural tube defect), an opening in the roof of the mouth (cleft palate), or heart abnormalities. Affected individuals may have underdeveloped shoulder blades that sit abnormally high on the back, a condition called Sprengel deformity.
How common is Klippel-Feil syndrome?
Klippel-Feil syndrome is estimated to occur in 1 in 40,000 to 42,000 newborns worldwide. Females seem to be affected slightly more often than males.
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