Klippel- Feil syndrome is a rare skeletal disorder which is characterised when there is abnormal fusion of two or more bones of the spinal column of the neck. It was first reported by Maurice Klipel and Andre Feil from France in 1912 and has been named after them. This disorder could result in short neck, restricted movement of the head and neck in some affected individuals. Although the disorder is present since the birth but there can also be cases where it remains undiagnosed until the later life when the symptoms get worse.
The spinal column or backbone of any individual is made of 33 irregularly shaped bones, known as vertebrae, are divided into different categories. The base of the skull has first seven vertebrae which are known as cervical vertebrae which is mainly at risk of getting affected by KFS.
The three types of cervical vertebral fusion include:
It is massive fusion of many cervical and upper thoracic vertebrae into the bony blocks.
It includes fusion at only one or two interspaces. But hemivertebrae, occipito-atlantal fusion and other anomalies can also occur.
This type has both cervical fusion and lower thoracic or lumber fusion.
The symptoms associated with KFS vary from person to person. Around 30 percent of people with this syndrome have additional skeletal abnormalities such as fusion of certain ribs, abnormal sideways curvature of the spine. While in some individuals a portion of the spinal cord may be exposed due to incomplete closure of certain vertebrae whereas others may be have tuft of hair or dimple over the underlying abnormality, weak legs, unable to control urination. And approximately 25 to 50 percent of individuals suffering from KFS have hearing impairment, eye abnormalities and facial asymmetry, abnormal twisting of the neck.
KFS can also be associated with physical abnormalities like congenital heart defects, ventricular septal defects, and kidney defects and with neurological complications such as instability of cervical vertebrae, abnormal sensations, increased reflex reactions or impairment of certain nerves that emerge from the brain.
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