Genetic disorders involving the skeletal system arise through disturbances in the complex processes of skeletal development, growth and homeostasis and remain a diagnostic challenge because of their variety. Almost 400 different forms of skeletal dysplasias have been described so far. 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.
Continued research is critically important to build on the knowledge and treatment advances made over the past 20 years sparked by the Orphan Drug Act (ODA). The ODA incentives have contributed to the development of many innovative biotechnology products and resulted in the identification of more “orphan diseases”. From 2000 to 2009, 1138 orphan drugs were designated and 148 received marketing approval, of which 38 (26%) were for pediatric diseases.
Because of the importance of this strategic area of bone health, IOF established the Skeletal Rare Diseases (SRD) Working Group, which aims to spread knowledge on rare diseases that affect bone metabolism.
The online resource below gives detailed information about more than 90 of the main rare diseases that affect the skeleton, outlined in four subcategories.