Etiology of Congenital Scoliosis

Congenital scoliosis is an abnormal lateral curvature of the spine, resulting from disruption of normal vertebral development. Although there are many types of defects observed in congenital scoliosis, all result from abnormal formation and segmentation of the vertebral precursors, called somites. Developmental studies in animal models have identified many genes regulating somite formation and segmentation. The interaction of environmental factors and these genes, is thought to be disrupted resulting in deformities such as congenital scoliosis. A basic science research program and a large, multi-center clinical genetic study of congenital scoliosis and kyphosis have been established at our institution. Studying the developmental mechanisms in vertebral patterning may aid in the identification of some protective factors for normal spinal development, towards the prevention of disfiguring congenital scoliosis.