Rare Bone Diseases
ERN BOND brings together all rare diseases, essentially congenital, chronic and of genetic origin, that affect cartilage, bones and dentine. This considerable group of diseases present a significant variation in clinical outcomes and limited research program are currently available to clarify their physiopathological bases. This large field may be shared in two main categories, skeletal dysplasias and metabolic bone diseases.
The eleventh version of the Nosology of Genetic Skeletal Disorders revised in 2023 comprises 771 different diseases associated with 552 genes that are classified into 41 groups based on their clinical, radiographic, and/or molecular phenotypes. (Unger S., et al. Am J Med Genet A. 2023). This revision is based on the work carried out within the joint collaboration between ISDS – the International Skeletal Dysplasia Society, ERN BOND and Orphanet, co-coordinated by Houda Ali (curator at Orphanet) and Geert Mortier (main curator of the 2019 Nosology).
The principles of diagnosis, management and follow up are quite overlapping, giving a greater coherence and consistency for categorization.
Listed below are the rare bone diseases covered by ERN BOND (non-exhaustive list under implementation). By clicking on the disease, you will be directed to the disease description on the Orphanet website.