Natural History of FD/MAS

Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare and complex condition caused by somatic variants in the GNAS gene, leading to a wide clinical spectrum. The diagnostic process and therapeutic pathways vary across centers, highlighting the need for international harmonization of data collection.

Objective

To understand the diagnostic pathways and clinical outcomes of patients with FD/MAS reported on an electronic-reporting tool (e-REC) across European centers, aiming to guide the development of a condition-specific module within the European Registries for Rare Endocrine and Bone Conditions.

Publications

For more publications see our publication page. 

Members of this Study Group

Name

Expertise / Role

Country
Lead: Natasha Appelman-Dijkstra internist-endocrinologist, EuRR-Bone coordinator the Netherlands
Roland Chapurlat rheumatologist France
Gaby Doxiadis patient representative the Netherlands
Kassim Javaid rheumatologist United Kingdom
Diana Ovejero Crespo endocrinologist Spain
Daniele Tessaris pediatric endocrinologist Italy
Nerea Arrieta Urriategi
Magdalena Caballero Campos		 patient representatives Spain
Oana Bulaicon endocrinologist the Netherlands
Lothar Seefried orthopedic surgeon Germany

For more information regarding the study or if you are interested to contribute to this study, please contact registries@lumc.nl.