An overview of the International Consensus Statement on achondroplasia

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Authors: Inês Alves, Svein O. Fredwall, Michael Hughes, Penelope Jane Ireland, Morrys C. Kaisermann, Ravi Savarirayan
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Abstract

Abstract Achondroplasia is the most common form of short-limbed short stature of genetic origin. Most people with achondroplasia live fully independent, productive, and socially engaged lives. However, the condition is associated with several potential medical complications. Individuals with achondroplasia may experience medical, functional, and psychosocial challenges at different times in their life. The goal for lifelong care of individuals with achondroplasia is to optimize their physical and mental health through provision of individualized care and to promote participation and inclusion in society. In this article, as a tool for individuals with achondroplasia, their families, and their healthcare team, we provide a guided overview of the 2022 International Consensus Statement for management and care of individuals with achondroplasia. The International Consensus Statement recommendations are based on current, best available knowledge. We provide commentary on the recommendations from the perspective of both patients and physicians through addressing medical/developmental considerations, the healthcare system, and psychosocial considerations.

Fields of Study & Subjects

Connective tissue disorders research Growth Hormone and Insulin-like Growth Factors Genomics and Rare Diseases

Publication details

Journal / source
Figshare
Publication date
1 January 2026