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

• Published in: Nature reviews. Endocrinology 2022-03, Vol.18 (3), p.173-189
• Main Authors: Savarirayan, Ravi, Ireland, Penny, Irving, Melita, Thompson, Dominic, Alves, Inês, Baratela, Wagner A. R., Betts, James, Bober, Michael B., Boero, Silvio, Briddell, Jenna, Campbell, Jeffrey, Campeau, Philippe M., Carl-Innig, Patricia, Cheung, Moira S., Cobourne, Martyn, Cormier-Daire, Valérie, Deladure-Molla, Muriel, del Pino, Mariana, Elphick, Heather, Fano, Virginia, Fauroux, Brigitte, Gibbins, Jonathan, Groves, Mari L., Hagenäs, Lars, Hannon, Therese, Hoover-Fong, Julie, Kaisermann, Morrys, Leiva-Gea, Antonio, Llerena, Juan, Mackenzie, William, Martin, Kenneth, Mazzoleni, Fabio, McDonnell, Sharon, Meazzini, Maria Costanza, Milerad, Josef, Mohnike, Klaus, Mortier, Geert R., Offiah, Amaka, Ozono, Keiichi, Phillips, John A., Powell, Steven, Prasad, Yosha, Raggio, Cathleen, Rosselli, Pablo, Rossiter, Judith, Selicorni, Angelo, Sessa, Marco, Theroux, Mary, Thomas, Matthew, Trespedi, Laura, Tunkel, David, Wallis, Colin, Wright, Michael, Yasui, Natsuo, Fredwall, Svein Otto
• Format: Article
• Language: English
• Subjects: 631/208; 692/163/2743/316; Achondroplasia; Achondroplasia - diagnosis; Achondroplasia - genetics; Achondroplasia - therapy; Bone dysplasia; Children; Consensus; Consensus Statement; Delphi method; Diagnosis; Dysplasia; Endochondral bone; Endocrinology; Fibroblast growth factor receptor 3; Fibroblast growth factor receptors; Hospitals; Humans; Life span; Medicin och hälsovetenskap; Medicine; Medicine & Public Health; Metabolism; Mutation; Ossification; Osteogenesis; Patients; Quality of Life; Receptor, Fibroblast Growth Factor, Type 3 - genetics; Skeleton; Standardization
• ISSN: 1759-5029; 1759-5037; 1759-5037
• DOI: 10.1038/s41574-021-00595-x

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.