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.
Achondroplasia is the most common form of short stature with shortened arms and legs. Achondroplasia is rare and often requires lifelong care by multiple team members. The aim of medical care for people with achondroplasia is to optimize health and promote participation in society. The 2022 International Consensus Statement, written by expert doctors, therapists, and patient representatives, is a complex and detailed document developed for healthcare professionals. In this article we provide people with achondroplasia and their families with the most current and accurate information based on the International Consensus Statement. We also provide comments from our own viewpoints as people with achondroplasia, family members, doctors, therapists, and other people involved in health care. The article covers (1) medical and developmental considerations from infancy to adulthood, (2) mental health and social support, and (3) the healthcare system. The article also includes four illustrations that show the main recommendations for medical care of babies, children, teenagers, and adults with achondroplasia.
Keywords: Achondroplasia; Consensus statement; Guidelines; Multidisciplinary care; Patient authors; Patient care team; Perspectives; Psychosocial support systems; Short stature.
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