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Achondroplasia

Achondroplasia is a rare genetic bone growth disorder and the most common form of disproportionate short stature.1 It is caused by a change in the fibroblast growth factor receptor 3 (FGFR3) gene, which impairs the growth of bone in the cartilage of the growth plate.2

Overview of Achondroplasia

Achondroplasia is the most common type of skeletal dysplasia and accounts for nearly 90% of disproportionate short stature or dwarfism. Characterised by impaired endochondral bone growth, it is caused by a gain-of-function mutation in the fibroblast growth factor receptor 3 (FGFR3) gene.

References:
  1. Ireland P et al. Optimal management of complications associated with achondroplasia. Appl Clin Genet 2014;7:117-25
  2. Horton WA et al. Achondroplasia. Lancet 2007;370:162-72.
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Complications of Achondroplasia

References:

  1. Wynn J, King TM, Gambello MJ, Waller DK, Hecht JT. Mortality in achondroplasia study: A 42-year follow-up. Am J Med Genet Part A. 2007;143A(21):2502-2511.
  2. Ireland PJ, Pacey V, Zankl A, Edwards P, Johnston LM, Savarirayan R. Optimal management of complications associated with achondroplasia. Appl Clin Genet. 2014;7:117-125. Published online June 24, 2014.
  3. Waller DK, Correa A, Vo TM, et al. The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US. Am J Med Genet A. 2008;146A(18):2385-2389.
  4. Pauli RM. Achondroplasia: a comprehensive clinical review. Orphanet J Rare Dis. 2019;14(1):1. Published online January 3, 2019.
  5. Laederich MB, Horton WA. Achondroplasia: pathogenesis and implications for future treatment. Curr Opin Pediatr. 2010;22(4):516-523.
  6. Hoover-Fong J, Scott CI, Jones MC; Committee on Genetics. Health supervision for people with achondroplasia. Paediatrics. 2020;145(6):e20201010.
  7. Hoover-Fong J, Cheung MS, Fano V, et al. Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history. Bone 2021;146:115872.
  8. Ireland PJ, McGill J, Zankl A, et al. Functional performance in young Australian children with achondroplasia. Dev Med Child Neurol. 2011;53(10):944-950.
  9. Berendsen AD, Olsen BR. Bone development. Bone. 2015;80:14-18.
  10. Shirley ED, Ain MC. Achondroplasia: manifestations and treatment. J Am Acad Orthop Surg. 2009;17(4):231-241.
  11. Vasques GA, Arnhold IJ, Jorge AA. Role of the natriuretic peptide system in normal growth and growth disorders. Horm Res Paediatr. 2014;82(4):222-229.
  12. Horton WA, Hall JG, Hecht JT. Achondroplasia. Lancet. 2007;370(9582):162-172.
  13. Ornitz DM, Legeai-Mallet L. Achondroplasia: Development, pathogenesis, and therapy. Dev Dyn. 2017;246(4):291-309.
  14. Xie Y, Zhou S, Chen H, Du X, Chen L. Recent research on the growth plate: advances in fibroblast growth factor signaling in growth plate development and disorders. J Mol Endocrinol. 2014;53(1):T11-T34.
  15. Unger S, Bonafé L, Gouze E. Current care and investigational therapies in achondroplasia. Curr Osteoporos Rep. 2017;15(2):53-60.
  16. Hunter AG, Bankier A, Rogers JG, Sillence D, Scott CI Jr. Medical complications of achondroplasia: a multicentre patient review. J Med Genet. 1998;35(9):705-712.
  17. Shirley ED, Ain MC. Achondroplasia: manifestations and treatment. J Am Acad Orthop Surg. 2009;17(4):231-241.
  18. Ain MC, Abdullah MA, Ting BL, et al. Progression of low back and lower extremity pain in a cohort of patients with achondroplasia. J Neurosurg Spine. 2010;13(3):335-340.
  19. Hoover-Fong J, Yewande Alade A, Ain M, et al. Blood pressure in adults with short stature skeletal dysplasias. Am J Med Genet Part A. 2019;182(1):150-161.
  20. Wright MJ, Irving MD. Clinical management of achondroplasia. Arch Dis Child. 2012;97(2):129-134.