An overview of the International Consensus Statement on achondroplasia

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.

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Journal
Orphanet Journal of Rare Diseases
Published
2026-01-20
DOI
https://doi.org/10.1186/s13023-025-04189-y
Primary Topic
Connective tissue disorders research
Type
article
Field-Weighted Citation Impact
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article

An overview of the International Consensus Statement on achondroplasia

Svein O. Fredwall, Penelope J. Ireland, Inês Alves, Morrys C. Kaisermann et al.
Orphanet Journal of Rare Diseases
Connective tissue disorders research
article

An overview of the International Consensus Statement on achondroplasia

Svein O. Fredwall, Penelope J. Ireland, Inês Alves, Morrys C. Kaisermann, Michael Hughes, Ravi Savarirayan
article en

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.

Orphanet Journal of Rare DiseasesVol. 21(1)
Queensland Health (AU), Royal Children's Hospital (AU), The University of Queensland (AU), University of Évora (PT), Sunnaas sykehus (NO), 490 BioTech (United States) (US), Children’s Health Queensland Hospital and Health Service (AU), Children's Health Queensland Hospital and Health Service (AU)
Reduced inequalities
Openalex Percentile: Top 84%
Connective tissue disorders research
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