Many people with Klippel-Feil syndrome have abnormal side-to-side curvature of the spine ( scoliosis ) due to malformation of the vertebrae fusion of additional vertebrae below the neck may also occur. In addition to the fused cervical bones, people with this condition may have abnormalities in other vertebrae. Affected individuals may develop a painful joint disorder called osteoarthritis around the areas of fused bone or experience painful involuntary tensing of the neck muscles (cervical dystonia). Rarely, spinal nerve abnormalities may cause abnormal sensations or involuntary movements in people with Klippel-Feil syndrome. 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. Fusion of the vertebrae can lead to nerve damage in the head, neck, or back. Trauma to the spine, such as a fall or car accident, can aggravate problems in the fused area. The shortened neck can cause a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). People with minimal bone involvement often have fewer problems compared to individuals with several vertebrae affected. In people with Klippel-Feil syndrome, the fused vertebrae can limit the range of movement of the neck and back as well as lead to chronic headaches and muscle pain in the neck and back that range in severity. Less than half of all individuals with Klippel-Feil syndrome have all three classic features of this condition. Most affected people have one or two of these characteristic features. Three major features result from this vertebral fusion: a short neck, the resulting appearance of a low hairline at the back of the head, and a limited range of motion in the neck. The vertebral fusion is present from birth. Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining ( fusion ) of two or more spinal bones in the neck (cervical vertebrae).
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