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International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia

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Ravi Savarirayan, Penny Ireland, Melita Irving, Dominic Thompson, Inês Alves, Wagner A.R. Baratela, James Betts, Michael B. Bober, Silvio Boero, Jenna Briddell, Jeffrey Campbell, Philippe M. Campeau, Patricia Carl-Innig, Moira S. Cheung, Martyn Cobourne, Valérie Cormier-Daire, Muriel Deladure-Molla, Mariana del Pino, Heather Elphick, Virginia Fano & 35 more Brigitte Fauroux, Jonathan Gibbins, Mari L. Groves, Lars Hagenäs, Therese Hannon, Julie Hoover-Fong, Morrys Kaisermann, Antonio Leiva-Gea, Juan Llerena, William Mackenzie, Kenneth Martin, Fabio Mazzoleni, Sharon McDonnell, Maria Costanza Meazzini, Josef Milerad, Klaus Mohnike, Geert R. Mortier, Amaka Offiah, Keiichi Ozono, John A. Phillips, Steven Powell, Yosha Prasad, Cathleen Raggio, Pablo Rosselli, Judith Rossiter, Angelo Selicorni, Marco Sessa, Mary Theroux, Matthew Thomas, Laura Trespedi, David Tunkel, Colin Wallis, Michael Wright, Natsuo Yasui, Svein Otto Fredwall

Original languageEnglish
JournalNature Reviews Endocrinology
Early online date26 Nov 2021
DOIs
Accepted/In press2021
E-pub ahead of print26 Nov 2021

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. Publisher Copyright: © 2021, Springer Nature Limited.

King's Authors

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.

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