Journal: Journal of Education, Health and Sport. 2025;79:58212. eISSN 2391-8306.
Authors: Daria Bednarczyk, Wiktoria Pysiewicz, Wiktor Garbarczyk, Agnieszka Napieralska, Albert Kapla, Michalina Jurkiewicz, Julia Bialeta, Katarzyrna Rowińska, Karolina Siembab and Alicja Çernohorská.
License and source: This article is licensed under the Creative Commons Attribution 4.0 International License (CC BY 4.0).
https://creativecommons.org/licenses/by/4.0/
Original publication available via the Journal of Education, Health and Sport
AI Disclosure: The original publication is unmodified. The Summary and Key Takeaways were generated with the assistance of AI and reviewed by the Care4Bones team. They are provided for informational and educational purposes only and do not replace the original publication or professional medical advice.
Summary: Achondroplasia, caused by gain-of-function FGFR3 mutations, is the most common dwarfism (about 1 in 25,000). It produces disproportionate short stature and multiple health issues—orthopedic, neurological, respiratory, and hearing problems—requiring multidisciplinary care. Current management includes recombinant human growth hormone (modest, short-term height gains), surgical limb lengthening (Ilizarov, PRECICE, 4-segment methods) and spinal procedures for foramen magnum stenosis or kyphosis. Newer pharmacologic and molecular approaches show promise: C-type natriuretic peptide analogues (Vosoritide, TransCon CNP) stimulate endochondral growth; FGFR-targeting strategies include tyrosine kinase inhibitors (infigratinib), soluble decoy receptors (Recifercept), repurposed drugs (meclozine), and preclinical CRISPR/Cas9 gene editing. Ongoing trials aim to improve efficacy, safety, and long-term outcomes.
Key Takeaways:
This article will provide valuable insights into:
- Achondroplasia stems from FGFR3 overactivity and causes disproportionate short stature plus systemic complications.
- Traditional treatments (growth hormone, limb lengthening, spinal surgery) improve function but have limits and risks.
- Vosoritide and TransCon CNP directly target growth pathways and are promising clinical advances.
- Molecular therapies (recifercept, infigratinib, meclozine) are under study; safety and long-term data pending.
- CRISPR/Cas9 offers future potential to correct the root genetic defect but remains preclinical.