Search

Achondroplasia, the most common form of disproportionate short stature, is caused by a variant in the fibroblast growth factor receptor 3 (FGFR3) gene. Advances in drug treatment for achondroplasia have underscored the need to better understand the natural history of this condition. This article provides a critical review and discussion of the natural history of achondroplasia based on current literature evidence and the perspectives of clinicians with extensive knowledge and practical experience in managing individuals with this diagnosis. This review draws evidence from recent and ongoing longitudinal natural history studies, supplemented with relevant cross-sectional studies where longitudinal research is lacking, to summarize the current knowledge on the nature, incidence, chronology, and interrelationships of achondroplasia-related comorbidities across the lifespan. When possible, data related to adults are presented separately from data specific to children and adolescents. Gaps in knowledge regarding clinical care are identified and areas for future research are recommended and discussed.

This study was undertaken to provide data on the range and quality of movement performances in normal four, five and six year olds, when asked to demonstrate a simple lumbrical pattern of MCP flexion and IP extension in combination with wrist extension. The study also evaluated the ability to isolate individual movements of the thumb, third and fifth digits against the stable background posture. Lumbrical control appears poorly developed at four years, but improves from four to six years of age. The ability to isolate individual finger movements from the basic resting position improved across the three age levels. The results of this study revealed little difference between the performances of boys and girls, or between performances with either hand.