Abstract
Achondroplasia, the most common skeletal dysplasia, is characterized by a variety of medical, functional and psychosocial challenges across the lifespan. The condition is caused by a common, recurring, gain-of-function mutation in FGFR3, the gene that encodes fibroblast growth factor receptor 3. This mutation leads to impaired endochondral ossification of the human skeleton. The clinical and radiographic hallmarks of achondroplasia make accurate diagnosis possible in most patients. However, marked variability exists in the clinical care pathways and protocols practised by clinicians who manage children and adults with this condition. A group of 55 international experts from 16 countries and 5 continents have developed consensus statements and recommendations that aim to capture the key challenges and optimal management of achondroplasia across each major life stage and sub-specialty area, using a modified Delphi process. The primary purpose of this first International Consensus Statement is to facilitate the improvement and standardization of care for children and adults with achondroplasia worldwide in order to optimize their clinical outcomes and quality of life.
Original language | English |
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Pages (from-to) | 173-189 |
Number of pages | 17 |
Journal | Nature Reviews Endocrinology |
Volume | 18 |
Issue number | 3 |
Early online date | 26 Nov 2021 |
DOIs | |
Publication status | Published - 31 Mar 2022 |
Bibliographical note
Funding Information:We thank Renée Shediac, Wayne Pan and Dominique Kelly (BioMarin Pharmaceutical Inc.) for administrative and logistical support. The initial meeting of the Consensus panel was sponsored by BioMarin Pharmaceutical Inc., which provided logistical assistance. They had no influence or input regarding the content of this Consensus Statement.
Funding
We thank Renée Shediac, Wayne Pan and Dominique Kelly (BioMarin Pharmaceutical Inc.) for administrative and logistical support. The initial meeting of the Consensus panel was sponsored by BioMarin Pharmaceutical Inc., which provided logistical assistance. They had no influence or input regarding the content of this Consensus Statement.
ASJC Scopus subject areas
- Endocrinology, Diabetes and Metabolism
- Endocrinology