Skeletal Rare Diseases Working Group

Members

Chair: ML Brandi
Members: G Adib, D Agnusdei, J Bilezikian, C Bogado, M Chandran, D Chappard, R Chapurlat, B Clarke, JP Devogelaer, R Eastell, A El Magrahoui, S Ferrari, G Guglielmi, N Hamdy, F Jakob, K Javaid, J Kanis, JM Kaufman, U Liberman, G Lyritis, L Masi, P Miller, N Napoli, S Papapoulos, R Rizzoli, S Silverman, N Watts
Co-opted: M Collins, W Höglerer, W van Hul, R Oheim, E Roldan, A Superti-Fruga

Aim

To investigate skeletal rare disorders and skeletal complications in non-skeletal rare disorders

Projects

1. SRD Course worldwide
2. Expression of hypophosphatasia in adults
3. Review on the uptake of drugs that are available for SRD in different geographical areas of the world
4. Developing brochures and risk cards for various skeletal rare diseases

Skeletal Rare Disorders

Description of detailed information about more than 90 of the main rare diseases that affect the skeleton

Publications

Related content: Skeletal Rare Disorders

https://www.iofbonehealth.org/osteoporosis-musculoskeletal-disorders/skeletal-rare-disorders

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

https://link.springer.com/article/10.1007/s00198-015-3188-9