Georgia Wei

The Effects of Achondroplasia on Quality of Life

Started Apr. 2, 2025

Abstract or project description

Achondroplasia is a heritable condition that affects human limb development. The condition is caused by a genetic mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. This genetic mutation causes hyperactivity of the FGFR3 protein, which results in slowed bone growth. Many individuals with achondroplasia have disproportionate limb growth, resulting in shorter arms and legs but average-sized torsos. Numerous studies throughout have found achondroplasia to be associated with a lower quality of life. In this study, the quality of life of individuals with achondroplasia and those without it are compared using a modified Quality of Life in Short Stature Youth (QoLISSY) survey. The survey focused on physical, social, emotional, and future categories. From the results, the study found that individuals with achondroplasia report experiencing a lower overall quality of life when evaluated with a convenience comparison group, particularly in the social, physical, and future categories. These results suggest future treatment options to look more into targeting improvements in quality of life for individuals with achondroplasia in these categories specifically, including providing both physical and mental support.