Epidemiology, Complications, and Management of Complications of Achondroplasia: A Systematic Literature Review and Meta-analysis

INTRODUCTION: Achondroplasia is a rare genetic condition associated with considerable clinical burden. This study examined the clinical burden of achondroplasia, including epidemiology, condition complications and their management, and the estimated prevalence of common complications. METHODS: A systematic literature review (SLR) was conducted (September 2025) to identify articles published from 2011. As a result of heterogeneity across studies, meta-analyses of complication prevalence were restricted to pediatric and adolescent populations. RESULTS: Overall, 200 studies were included. Forty-five studies reported epidemiological data; the prevalence of achondroplasia ranged from one to 67 per 100,000 births. The most common neurological complications were cervicomedullary compression/craniocervical junction stenosis (mean 34%; n = 13) and foramen magnum narrowing (FMN; mean 26%; n = 21). The top respiratory complications were sleep disordered breathing (SDB; mean 60%; n = 13) and obstructive sleep apnea (mean 48%; n = 27). Ear, nose, and throat (ENT) complications comprised ear infections (mean 40%; n = 12) and hearing impairment (mean 40%; n = 16). Common orthopedic complications included kyphosis (mean 43%; n = 22) and bowing of legs or genu varum (mean 39%; n = 7). The top complications among pediatric populations were SDB (mean 65% [95% confidence interval (CI) 36, 85]; n = 13) and FMN (mean 56% [37, 73]; n = 20). Cervicomedullary decompression (mean 11%; n = 22) was a more frequent treatment option for neurologic complications than suboccipital decompression (mean 19%; n = 3). Typical interventions included ENT procedures (mean 40%; n = 37) and surgery for orthopedic complications (mean 28%; n = 27). Twenty-six studies reported complications from limb-lengthening surgeries (mean age of treatment 6.2-16.9 years). CONCLUSION: This SLR and meta-analysis underscore the significant clinical burden related to complications and their management in individuals with achondroplasia. Prevalence estimates varied widely by geography, reflecting differences in data sources, case ascertainment, and reporting practices. The high frequency and severity of complications underscore the need for effective treatments to reduce complication burden and improve patient quality of life.