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Achondroplasia By: Adam Tarnasky and Shu Wang

Achondroplasia By: Adam Tarnasky and Shu Wang. Background/History. Discovered in 1878 by Jules Parrott Dr. John Wasmuth found the cause in 1994 Discovered a mutation of the fibroblast growth factor receptor – 3 (FGFR3) gene on human chromosome 4 It means “without cartilage formation”

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Achondroplasia By: Adam Tarnasky and Shu Wang

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  1. Achondroplasia By: Adam Tarnasky and Shu Wang

  2. Background/History • Discovered in 1878 by Jules Parrott • Dr. John Wasmuth found the cause in 1994 • Discovered a mutation of the fibroblast growth factor receptor – 3 (FGFR3) gene on human chromosome 4 • It means “without cartilage formation” • Most common form of short-limb dwarfism

  3. People Affected By It • Abnormal hand appearance with space between long and ring fingers • Decreased muscle tone • No specific treatment • Life expectancy is about 80 years of age • Most people who have it live completely normal lives

  4. How It’s Passed On • Inherited as an autosomal dominant trait • 80% of cases are due to new mutations (neither parent has it) • Chance of a new mutation rises with the age of the father • Gene for it is fully penetrant • Some variation in expression of the gene

  5. Fun Facts • 80% of children with it have average sized parents • One of the oldest recorded birth defects- depicted in ancient China • Actors such as Wee-Man, Verne Troyer, and Martin Klebba have it • Aristotle described dwarfism in some of his treatises

  6. Actors

  7. Works Cited • "Who Discovered It." Who Discovered It. N.p., n.d. Web. 21 Feb. 2013. • Lee, Ryan W Y. "MedLink." MedLink. N.p., 15 Feb. 2012. Web. 21 Feb. 2013. • "Achondroplasia." - Genetics Home Reference. N.p., May 2012. Web. 21 Feb. 2013. • Twyman, RIchard. "Achondroplasia." In the Genome. N.p., 08 Feb. 2004. Web. 21 Feb. 2013. • "Achondroplasia: MedlinePlus Medical Encyclopedia." U.S National Library of Medicine. U.S. National Library of Medicine, n.d. Web. 21 Feb. 2013. • "Achondroplasia Dwarfism." : What Is the Life Expectancy of Someone with Dwarfism?N.p., 19 Feb. 2009. Web. 21 Feb. 2013. • "Learning About Achondroplasia." Learning About Achondroplasia. N.p., n.d. Web. 21 Feb. 2013.

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