1. International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia
- Author
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Virginia Fano, Martyn T. Cobourne, Patricia Carl-Innig, Michael B. Bober, Melita Irving, Fabio Mazzoleni, Jeffrey W. Campbell, Brigitte Fauroux, Dominic Thompson, Judith P Rossiter, Jenna W. Briddell, Yosha Prasad, Mary C. Theroux, Geert Mortier, Antonio Leiva-Gea, Amaka C. Offiah, Klaus Mohnike, Penny Ireland, James A. Betts, Juan Llerena, Steven Powell, Heather Elphick, Pablo Rosselli, Wagner A.R. Baratela, Therese Hannon, Kenneth W. Martin, Marco Sessa, Natsuo Yasui, Michael Wright, Moira Cheung, Matthew Thomas, Inês Alves, Jonathan Gibbins, Cathleen L. Raggio, Muriel Deladure-Molla, Angelo Selicorni, Lars Hagenäs, Sharon McDonnell, William G. Mackenzie, Morrys Kaisermann, Maria Costanza Meazzini, Svein O. Fredwall, Laura Trespedi, Ravi Savarirayan, Philippe M. Campeau, Mari L. Groves, Valérie Cormier-Daire, Keiichi Ozono, Julie Hoover-Fong, David E. Tunkel, John A. Phillips, Josef Milerad, Silvio Boero, C Wallis, and Mariana del Pino
- Subjects
musculoskeletal diseases ,medicine.medical_specialty ,congenital, hereditary, and neonatal diseases and abnormalities ,Consensus ,Statement (logic) ,Endocrinology, Diabetes and Metabolism ,MEDLINE ,Achondroplasia ,Endocrinology ,Quality of life (healthcare) ,SDG 3 - Good Health and Well-being ,Multidisciplinary approach ,Osteogenesis ,Medicine ,Humans ,Receptor, Fibroblast Growth Factor, Type 3 ,Intensive care medicine ,business.industry ,medicine.disease ,Life stage ,Optimal management ,Mutation ,Quality of Life ,Human medicine ,business ,Psychosocial - 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. Achondroplasia is the most common skeletal dysplasia and is characterized by various lifelong clinical, functional and psychosocial challenges for affected individuals. This first International Consensus Statement on the care of children and adults with achondroplasia aims to facilitate the global standardization and improvement of achondroplasia clinical care.
- Published
- 2021
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