Arthrogryposis multiplex congenita (AMC) has been described and defined in thousands of articles, but the terminology used has been inconsistent. Some have described it as a diagnosis or syndrome, others as a term or clinical finding. This lack of common language can lead to confusion in clinical and research communities. The aim of this study was to develop a consensus-based definition for AMC using international expert opinion. A consensus-based definition will help harmonize research and clinical endeavors and will facilitate communication among families, clinicians, and researchers. This article describes the methodology used leading to a proposed definition of AMC. First, a literature review was conducted to identify AMC definitions used in included studies. The most commonly used words in the definitions were extracted. Second, a group of eight experts in AMC was selected to identify elements considered critically important to the definition of AMC. Third, based on these critical elements and the literature review, a definition was drafted by the research team. Fourth, a modified Delphi consensus process was conducted using electronic surveys with 25 experts in the field of AMC from eight countries. Survey results were analyzed quantitatively and qualitatively and drafts were modified accordingly. Three rounds of surveys were completed until consensus was reached on a definition of AMC. An annotation of this definition, developed by a panel of international experts, is provided in a separate manuscript in this special issue.

Sarah Cachecho

Caroline Elfassy

Reggie Hamdy

Peter Rosenbaum

Noémi Dahan‐Oliel

American Journal of Medical Genetics Part C Seminars in Medical Genetics

医学遗传学研讨会是美国医学遗传学杂志 (AJMG) 的 C 部分，既是教育资源又是评论论坛，为在人类和医学领域工作的学生、从业者和相关专业人士提供重要、深入的回顾遗传学。每期都由一位遗传学特色领域的研究人员进行客座编辑，提供来自世界各地专家的主题评论集。医学遗传学研讨会每年出版四次。

The American Journal of Medical Genetics, Part C: Seminars in Medical Genetics is the C section of the American Journal of Medical Genetics (AJMG), serving as both an educational resource and a review forum. It provides important and in-depth reviews of genetics for students, practitioners, and professionals working in the fields of human and medical genetics. Each issue is guest-edited by a researcher in a specific area of genetics, featuring a collection of thematic reviews from experts around the world. The journal is published quarterly.

《American Journal of Medical Genetics, Part C: Seminars in Medical Genetics》是美国医学遗传学杂志（AJMG）的C部分，既是一个教育资源，也是一个评论论坛，旨在为在人类和医学领域工作的学生、从业者及相关专业人士提供重要且深入的遗传学回顾。每期由一位在遗传学特定领域的研究人员担任客座编辑，汇集来自全球专家的主题评论。该期刊每年出版四期。

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Arthrogryposis multiplex congenita definition: Update using an international consensus‐based approach

The aim of this study was to develop a consensus‐based definition for AMC using international expert opinion to help harmonize research and clinical endeavors and will facilitate communication among families, clinicians, and researchers.

Category	Quartile
医学	3
医学, 遗传学	3

Arthrogryposis multiplex congenita definition: Update using an international consensus‐based approach

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Journal Info

Category	Quartile
GENETICS & HEREDITY	2