Skeletal Rare Diseases such as osteogenesis imperfecta, juvenile Paget’s disease or osteopetrosis, are only three of the more than 400 developmental abnormalities of the skeletal system. Being both rare and complex, such genetic diseases pose a great challenge in terms of diagnosis, particularly when the patient has a mild form of the disorder. With advances in molecular genetics, it has become evident that variable phenotypes can be caused by mutations in one gene, depending on the mutation type and location within the gene.

This online Atlas, prepared by the IOF Working Group on Skeletal Rare Diseases, classifies more than 90 rare genetic metabolic bone disorders according to their metabolic pathogenesis, outlined in four subcategories. This information can help doctors accurately diagnose their patients and offer appropriate treatment options.


Reference:  Taxonomy of rare genetic metabolic bone disorders . Masi, L., Agnusdei, D., Bilezikian, J. et al. and the Skeletal Rare Diseases Working Group of the International Osteoporosis Foundation. Osteoporosis International (2015). DOI 10.1007/s00198-015-3188-9