The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non-genetic causes implicated in its prenatal development. AMC requires lifelong, multidisciplinary management, a challenge compounded by their rarity and phenotypic heterogeneity. Our understanding of AMC is hampered by diagnostic delays, scarce trained specialists, and variable clinician expertise. Research networks are paramount to harmonize efforts, increase awareness, and accelerate progress toward understanding of rare conditions. Therefore, we established a consortium for AMC (IC4AMC) in 2020, a multi-national network dedicated to improving AMC care, research, and knowledge across North America, Europe, and West Asia. IC4AMC engages a diverse group of stakeholders including clinicians, researchers, individuals with AMC, families, and support groups to better understand and address the most pressing needs in AMC care and research. In this paper, we introduced the missions and aims of the IC4AMC around four pillars of early detection, clinical care, research, and education, all embedded in two cross-cutting principles of knowledge mobilization and community engagement. This effort will inform the development of targeted initiatives aimed at improving outcomes for rare diseases.

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Journal
American Journal of Medical Genetics Part C Seminars in Medical Genetics
Published
2026-06-26
DOI
https://doi.org/10.1002/ajmg.c.70013
Primary Topic
Neurogenetic and Muscular Disorders Research
Type
article
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article

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

Alicja Fąfara, Johanna I.P. de Vries, Judith G. Hall, Paul A. Trainor et al.
American Journal of Medical Genetics Part C Seminars in Medical Genetics
Neurogenetic and Muscular Disorders Research
article

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

Alicja Fąfara, Johanna I.P. de Vries, Judith G. Hall, Paul A. Trainor, Klaus Dieterich, Bonita Sawatzky, Coleman Hilton, Isabel Filges, Shahrzad Nematollahi, Göknur Haliloğlu, Ani Samargian, Daniel Natera‐de Benito, Noémi Dahan‐Oliel, Victoria Castillo Sanchez, Carolina Navalón, Tony Pan, Philip Giampietro, Noa Bouzaglo, Valentina Maestri, Harold van Bosse, Remco Jansen
article en

Abstract

Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non-genetic causes implicated in its prenatal development. AMC requires lifelong, multidisciplinary management, a challenge compounded by their rarity and phenotypic heterogeneity. Our understanding of AMC is hampered by diagnostic delays, scarce trained specialists, and variable clinician expertise. Research networks are paramount to harmonize efforts, increase awareness, and accelerate progress toward understanding of rare conditions. Therefore, we established a consortium for AMC (IC4AMC) in 2020, a multi-national network dedicated to improving AMC care, research, and knowledge across North America, Europe, and West Asia. IC4AMC engages a diverse group of stakeholders including clinicians, researchers, individuals with AMC, families, and support groups to better understand and address the most pressing needs in AMC care and research. In this paper, we introduced the missions and aims of the IC4AMC around four pillars of early detection, clinical care, research, and education, all embedded in two cross-cutting principles of knowledge mobilization and community engagement. This effort will inform the development of targeted initiatives aimed at improving outcomes for rare diseases.

American Journal of Medical Genetics Part C Seminars in Medical Genetics
Stowers Institute for Medical Research (US), Jagiellonian University (PL), Hospital Sant Joan de Déu Barcelona (ES), University of British Columbia (CA), Emory University (US), Inserm (FR), Converse College (US), Centre Hospitalier Universitaire de Grenoble (FR), Ottawa Hospital (CA), House of Representatives (NL), McGill University Health Centre (CA), Shriners Hospitals for Children - Canada (CA), University Hospital of Basel (CH), University of Illinois Chicago (US), University of Chicago Medical Center (US), Spanish Multiple Sclerosis Network (ES), Amsterdam Neuroscience (NL), Shriners Hospitals for Children - Tampa (US), University of Kansas Medical Center (US), Grenoble Institute of Neurosciences (FR), Amsterdam University Medical Centers (NL), Institut pour l'avancée des biosciences (FR), Ospedali Riuniti Umberto I (IT), Hacettepe University (TR), University of Amsterdam (NL), Université Grenoble Alpes (FR)
Partnerships for the goals
Openalex Percentile: Top 7%
Neurogenetic and Muscular Disorders Research
DOISourceOpenAlex
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