Achondroplasia

Achondroplasia is a type of genetic disorder that is a common cause of dwarfism. People with this condition have short stature, usually reaching a full adult height of around 4'0" (1.22 metres). The disorder is a result of an autosomal dominant mutation in the fibroblast growth factor receptor gene 3 (FBFR3), which causes an abnormality of cartilage formation. It occurs at a frequency of about 1 in 20,000 to 1 in 40,000 births.

External links

• Description of Achondroplasia from the Wellcome Trust
• Achondroplasia by by Kathleen Tozer, M.D. & Bart Keogh, M.D., University of Washington Department of Radiology
• Approach to Skeletal Dysplasias
• Azouz, E. M., Teebi, A. S., Chen, M.-F., Lemyre, E., and P. Glanc. "Achondroplasia, Hypochondroplasia, and Thanatophoric Dysplasia: Review and Update ," Canadian Association of Radiologists Journal 50(3): 185. June 1999.