Skeletal Rare Disorders
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.
ATLAS OF RARE GENETIC METABOLIC BONE DISORDERS
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 to 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
In August 2020 IOF launched the Skeletal Rare Disease Academy and issued the first Skeletal Rare Disease Academy awards. Read more
Latest publication: Masi, L., Ferrari, S., Javaid, M.K. et al. Bone fragility in patients affected by congenital diseases non skeletal in origin. Orphanet J Rare Dis 16, 11 (2021).
WEBINARS ABOUT SKELETAL RARE DISEASES
HYPOPHOSPHATASIA CURRENT PRACTICE, DIAGNOSIS & MANAGEMENT IN ADULTS
Key learning objectives:
- To learn the background of HPP and its pathological category of skeletal rare disorders
- To identify key clinical aspects of HPP and the therapeutic approaches
- To recognise challenges within the development of adequate care management of patients
This webinar was supported by Alexion
SKELETAL RARE DISEASES: THE NEXT FRONTIER FOR THE BONE DOCTOR
Key learning objectives include: