Achondroplasia

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Yang, C. Achondroplasia. Encyclopedia. Available online: https://encyclopedia.pub/entry/4384 (accessed on 25 September 2026).

Yang C. Achondroplasia. Encyclopedia. Available at: https://encyclopedia.pub/entry/4384. Accessed September 25, 2026.

Yang, Catherine. "Achondroplasia" Encyclopedia, https://encyclopedia.pub/entry/4384 (accessed September 25, 2026).

Yang, C. (2020, December 23). Achondroplasia. In Encyclopedia. https://encyclopedia.pub/entry/4384

Yang, Catherine. "Achondroplasia." Encyclopedia. Web. 23 December, 2020.

Achondroplasia

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/achondroplasia

Achondroplasia is a form of short-limbed dwarfism. The word achondroplasia literally means "without cartilage formation." Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. However, in achondroplasia the problem is not in forming cartilage but in converting it to bone (a process called ossification), particularly in the long bones of the arms and legs. Achondroplasia is similar to another skeletal disorder called hypochondroplasia, but the features of achondroplasia tend to be more severe.

genetic conditions

References

Horton WA, Hall JG, Hecht JT. Achondroplasia. Lancet. 2007 Jul14;370(9582):162-172. doi: 10.1016/S0140-6736(07)61090-3. Review.
Horton WA, Lunstrum GP. Fibroblast growth factor receptor 3 mutations inachondroplasia and related forms of dwarfism. Rev Endocr Metab Disord. 2002Dec;3(4):381-5. Review.
Horton WA. Recent milestones in achondroplasia research. Am J Med Genet A.2006 Jan 15;140(2):166-9.
Laederich MB, Horton WA. Achondroplasia: pathogenesis and implications forfuture treatment. Curr Opin Pediatr. 2010 Aug;22(4):516-23. doi:10.1097/MOP.0b013e32833b7a69. Review.
Legare JM. Achondroplasia. 1998 Oct 12 [updated 2020 Aug 6]. In: Adam MP,Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors.GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle;1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1152/
Trotter TL, Hall JG; American Academy of Pediatrics Committee on Genetics.Health supervision for children with achondroplasia. Pediatrics. 2005Sep;116(3):771-83. Erratum in: Pediatrics. 2005 Dec;116(6):1615.
Vajo Z, Francomano CA, Wilkin DJ. The molecular and genetic basis offibroblast growth factor receptor 3 disorders: the achondroplasia family ofskeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome withacanthosis nigricans. Endocr Rev. 2000 Feb;21(1):23-39. Review.
Wright MJ, Irving MD. Clinical management of achondroplasia. Arch Dis Child.2012 Feb;97(2):129-34. doi: 10.1136/adc.2010.189092.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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