The Molecular Basis of Genetic Collagen Disorders and Its Clinical Relevance

➤ Skeletal dysplasias are caused by mutations in genes that encode the collagen molecule family, including collagen type I, collagen type II, and collagen type IX. ➤ These entities, including osteogenesis imperfecta and Ehlers-Danlos syndrome, among others, are characterized by brittle bones, disorganized growth plates, and alterations of linear growth. ➤ Current treatments include pharmacological agents, including bisphosphonates, and surgical modalities such as spinal fusions and fracture fixation with intramedullary rods. ➤ Other treatments including cell and gene-based therapies remain in the experimental stages.