ENOrphanet Journal of Rare Diseases | Nationwide Epidemiological Analysis of Achondroplasia and Hypochondroplasia in France
Date: November 05, 2025
Classification: Frontiers
Recommend:
This study provides the first national birth prevalence data for ACH and HCH in France, revealing diagnostic patterns and epidemiological characteristics of both diseases. The findings are significant for improving early recognition and optimizing specialist care pathways for rare bone disorders.
Literature Overview
The article 'Achondroplasia and hypochondroplasia in France: a nationwide epidemiological analysis' published in Orphanet Journal of Rare Diseases reviews national birth prevalence data for ACH and HCH in France, while exploring their genetic patterns, diagnostic timing, and epidemiological trends. The study shows an average birth prevalence of 3.27/100,000 for ACH and 1.31/100,000 for HCH, with frequent diagnostic delays for HCH. The article emphasizes the necessity of improving early diagnosis rates and optimizing specialist care.
Background Knowledge
Achondroplasia (ACH) and Hypochondroplasia (HCH) are both autosomal dominant skeletal developmental disorders caused by gain-of-function mutations in the FGFR3 gene. FGFR3 encodes fibroblast growth factor receptor 3, whose mutation impedes chondrocyte proliferation, affecting long bone and cranial development. Currently, ACH has targeted therapy (Vosoritide), while HCH lacks specific treatment. Despite phenotypic similarities, HCH's milder clinical presentation often causes delayed or missed diagnosis, compromising epidemiological data accuracy. This study, based on France's National Rare Disease Database (BNDMR), systematically analyzes national birth prevalence for ACH and HCH for the first time, accounting for France's high rate of medical pregnancy terminations. It fills the epidemiological data gap in France and provides a foundation for future healthcare resource allocation and clinical research.
Research Methods and Experiments
This retrospective epidemiological study utilized data from France's National Rare Disease Database (BNDMR), covering 766 diagnosed ACH and 408 HCH cases between 2008-2024. Fetal cases with pregnancy terminations were excluded, with analysis focused on live births. Patient data included birth year, gender, residence area, genetic patterns, diagnostic methods (clinical or molecular), diagnostic timing (prenatal, at birth, or postnatal), and follow-up duration. Epidemiological data were standardized using annual birth statistics from France's National Institute of Statistics and Economic Studies (INSEE). Statistical analysis was conducted using Python 3.8 with chi-square tests for categorical variables, considering p<0.05 as statistically significant.
Key Conclusions and Perspectives
Research Significance and Prospects
This study represents France's first national epidemiological analysis, providing data support for early recognition and care pathway optimization. With emerging targeted therapies, strengthening follow-up capabilities at specialized centers is critical for equitable and timely medical interventions. Future approaches should combine imaging and molecular screening to improve early HCH diagnosis.
Conclusion
Basing on France's National Rare Disease Database (BNDMR), this study provides national birth prevalence data for ACH and HCH, revealing ACH is typically diagnosed prenatally or at birth, while HCH often requires years for identification. The study highlights HCH's potential underestimation due to milder phenotypes and lower molecular diagnostic rates. France's ACH prevalence aligns with other European regions, while HCH data represent the first national report. These findings have significant implications for developing screening strategies, enhancing specialist follow-up, and optimizing treatment timing for rare skeletal disorders, particularly with expanding targeted therapies like Vosoritide. Future efforts should focus on increasing HCH awareness among medical professionals and the public, while promoting genetic testing accessibility.
