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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

Signs and symptoms of Achondroplasia

Achondroplasia is caused by a change in the FGFR3 gene.1,2 Although the most visible effects are in the arms, legs and face, achondroplasia affects almost all bones in the body.2

Achondroplasia is characterised by distinctive features, including disproportionate short stature, curvature of the spine and an enlarged head (macrocephaly).3 These characteristics may lead to health challenges, including:2,4

  • Reduced breathing for short periods of time (apnoea)
  • Upper airway obstruction
  • Obesity
  • Hearing loss
  • Dental problems
  • In addition, adults may develop bowed legs and lower back problems that can lead to difficulty walking.

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.
  3. Hoover-Fong J et al. Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history. Bone 2021;106: https://doi.org/10.1016/j.bone.2021.115872
  4. Hoover-Fong JE et al. Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States. Genet Med 2021;23(8):1498-1505.

Read more about Achondroplasia on BioMarin.com

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