SKELETOME: An eResearch Platform for the Skeletal Dysplasia Domain

Skeletal dysplasias are a heterogeneous group of genetic disorders affecting human skeletal development. Currently, there are over 440 recognized types, categorized into 40 groups. Patients with skeletal dysplasias have complex medical issues, such as short stature, degenerative joint disease, scoliosis or neurological complications. Since most skeletal dysplasias are very rare (<1:10,000 births), data on clinical presentation, natural history and best management is sparse. The lack of data makes existing patient cases a precious resource for biomedical research because they enable scientists to study, among other things, the effects of single genes on human bone and cartilage development and function. The resulting insights may lead to a better understanding of the pathogenesis of more common connective tissue disorders, such as arthritis or osteoporosis.