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

• Published in: Nature reviews. Endocrinology Vol. 18; no. 3; pp. 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: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 01.03.2022; Nature Publishing Group
• 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

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. Th...