Results 11 to 20 of about 11,039 (220)

The first European consensus on principles of management for achondroplasia

Orphanet Journal of Rare Diseases, 2021
Achondroplasia is the most common type of skeletal dysplasia, caused by a recurrent pathogenic variant in the fibroblast growth factor receptor 3 (FGFR3). The management of achondroplasia is multifaceted, requiring the involvement of multiple specialties
Valerie Cormier-Daire, Moeenaldeen AlSayed, Tawfeg Ben-Omran, Sérgio Bernardo de Sousa, Silvio Boero, Svein O. Fredwall, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Zagorka Peijin, Klaus Mohnike   +12 more
doaj   +2 more sources

Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations

Orphanet Journal of Rare Diseases, 2022
Background Achondroplasia is the most common form of skeletal dysplasia, with serious comorbidities and complications that may occur from early infancy to adulthood, requiring lifelong management from a multidisciplinary team expert in the condition The ...
Valerie Cormier-Daire, Moeenaldeen AlSayed, Inês Alves, Joana Bengoa, Tawfeg Ben-Omran, Silvio Boero, Svein Fredwall, Catherine Garel, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Sérgio B. Sousa, Klaus Mohnike   +14 more
doaj   +2 more sources

Real-world evidence in achondroplasia: considerations for a standardized data set

Orphanet Journal of Rare Diseases, 2023
Background Collection of real-world evidence (RWE) is important in achondroplasia. Development of a prospective, shared, international resource that follows the principles of findability, accessibility, interoperability, and reuse of digital assets, and ...
Yasemin Alanay, Klaus Mohnike, Ola Nilsson, Inês Alves, Moeenaldeen AlSayed, Natasha M. Appelman-Dijkstra, Genevieve Baujat, Tawfeg Ben-Omran, Sandra Breyer, Valerie Cormier-Daire, Pernille Axél Gregersen, Encarna Guillén-Navarro, Wolfgang Högler, Mohamad Maghnie, Swati Mukherjee, Shelda Cohen, Jeanne Pimenta, Angelo Selicorni, J. Oliver Semler, Sabine Sigaudy, Dmitry Popkov, Ian Sabir, Susana Noval, Marco Sessa, Melita Irving   +24 more
doaj   +2 more sources

Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study

Orphanet Journal of Rare Diseases, 2023
Background Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene, is the most common skeletal dysplasia. The Lifetime Impact of Achondroplasia Study in Europe (LIAISE; NCT03449368) aimed to quantify the burden of ...
Mohamad Maghnie, Oliver Semler, Encarna Guillen-Navarro, Angelo Selicorni, Karen E. Heath, Gabriele Haeusler, Lars Hagenäs, Andrea Merker, Antonio Leiva-Gea, Vanesa López González, Adalbert Raimann, Mirko Rehberg, Fernando Santos-Simarro, Diana-Alexandra Ertl, Pernille Axél Gregersen, Roberta Onesimo, Erik Landfeldt, James Jarrett, Jennifer Quinn, Richard Rowell, Jeanne Pimenta, Shelda Cohen, Thomas Butt, Renée Shediac, Swati Mukherjee, Klaus Mohnike   +25 more
doaj   +2 more sources

Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population

Nature Communications
Human craniofacial shape is highly variable yet highly heritable with numerous genetic variants interacting through multiple layers of development. Here, we hypothesize that Mendelian phenotypes represent the extremes of a phenotypic spectrum and, using ...
Michiel Vanneste, Hanne Hoskens, Seppe Goovaerts, Harold Matthews, Jay Devine, Jose D. Aponte, Joanne Cole, Mark Shriver, Mary L. Marazita, Seth M. Weinberg, Susan Walsh, Stephen Richmond, Ophir D. Klein, Richard A. Spritz, Hilde Peeters, Benedikt Hallgrímsson, Peter Claes   +16 more
doaj   +2 more sources

Gait in children with achondroplasia – a cross-sectional study on joint kinematics and kinetics

BMC Musculoskeletal Disorders, 2022
Background Children with achondroplasia have extreme short stature due to short limbs, as well as several other clinical features that may affect their gait.
Eva W. Broström, Lotte Antonissen, Johan von Heideken, Anna-Clara Esbjörnsson, Lars Hagenäs, Josefine E. Naili   +5 more
doaj   +2 more sources

Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies

Therapeutic Advances in Musculoskeletal Disease, 2022
Background: Achondroplasia is the most common short-limbed skeletal dysplasia resulting from gain-of-function pathogenic variants in fibroblast growth factor receptor 3 ( FGFR3 ) gene, a negative regulator of endochondral bone formation.
Ravi Savarirayan, Josep Maria De Bergua, Paul Arundel, Helen McDevitt, Valerie Cormier-Daire, Vrinda Saraff, Mars Skae, Borja Delgado, Antonio Leiva-Gea, Fernando Santos-Simarro, Jean Pierre Salles, Marc Nicolino, Massimiliano Rossi, Peter Kannu, Michael B. Bober, John Phillips, Howard Saal, Paul Harmatz, Christine Burren, Garrett Gotway, Terry Cho, Elena Muslimova, Richard Weng, Daniela Rogoff, Julie Hoover-Fong, Melita Irving   +25 more
doaj   +2 more sources

Experiences of children and adolescents living with achondroplasia and their caregivers

Molecular Genetics & Genomic Medicine, 2022
Background Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene (FGFR3), leads to significant multisystem complications across the lifespan that may affect the health‐related quality of life (HRQoL) of ...
Renée Shediac, Olga Moshkovich, Heather Gerould, Rachel Ballinger, Agnes Williams, M. Alex Bellenger, Jennifer Quinn, Julie Hoover‐Fong, Klaus Mohnike, Ravi Savarirayan, Dominique Kelly   +10 more
doaj   +2 more sources

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications [PDF]

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
openalex   +2 more sources

Achondroplasia

Bristol medico-chirurgical journal (1883)
Citation: 'achondroplasia' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.10327 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms. Requests for commercial
Chamarthi VS, Chamarthi S, Karsonovich T.   +2 more
europepmc   +4 more sources