Cervical Vertebral Fusion Syndrome

Abstract

Klippel feil syndrome (KFS) is a congenital condition brought on by a genetic mutation that mostly affects the spine. It is a bone disorder, characterizedby the congenital fusion of any two of the 7 cervical vertebrae. It is the abnormal joining (fusion) of 2 or more spinal bones in the neck (cervical vertebrae).The vertebral fusion is present from birth (congenital), stenosis in the spine, extra bone growth and the rare occurrence of lesions. But mild may go undiagnosed until later during life such as loss of sensory and motor control in the limbs caused by gradual stenosis. KFS may occur as an isolated abnormality or in association with certain syndromes. In many individuals with cervical vertebral fusion, it may be inherited as an autosomal recessive trait or autosomal dominant. In some cases, KFS are associated with mutations of GDF6 gene on chromosome 8. Rx includes posterior cervical stabilization.