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Achondroplasia

Achondroplasia. By Jake Armus. Brief History. Term proposed by Jules Parrott in 1878 Parrot and Pierre Marie first modern scientists to clinically describe achondroplasia Literally means “without cartilage formation” Condition occurs in 1 in 15,000 to 40,000 newborns

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Achondroplasia

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  1. Achondroplasia By Jake Armus

  2. Brief History • Term proposed by Jules Parrott in 1878 • Parrot and Pierre Marie first modern scientists to clinically describe achondroplasia • Literally means “without cartilage formation” • Condition occurs in 1 in 15,000 to 40,000 newborns • Majority of cases (75-80%) are result of new mutation • It is a gene mutation

  3. Phenotypic Effects • Normal sized torso but short arms and legs • Large Head • Prominent forehead • Hands are short with stubby fingers • Decreased muscle tone • Bowed Legs • Individuals with achondroplasia usually reach adult height of 4 feet • Individuals with achondroplasia have an increased risk for heart problems

  4. How is it diagnosed? • Generally diagnosed with X-ray and physical examination • Genetic testing can be used to identify a mutation in the FGFR3 Gene • Scientists do not know why this mutation occurs • Caused by a G to A point mutation at nucleotide 1138 of the FGFR3 gene, which causes a glycine to arganine substitution.

  5. Can It be passed down? • May be inherited as an autosomal dominant trait • Most common hereditary form of dwarfism • If one parent has achondroplasia, child has 50% chance of inheriting the disorder • If both parents have it then the chance is 75%

  6. TREATMENTS • There is No Cure • Human Growth Hormone can be administered to increase bone growth rate among those with achondroplasia • Surgery sometimes needed to correct skeletal deformities (rare cases)

  7. Bibliography • Bones.emedtv.com. N.p., n.d. Web. 18 Nov. 2012. <http://bones.emedtv.com/achondroplasia/what-causes-achondroplasia.html>. • Genome.gov. N.p., n.d. Web. 17 Nov. 2012. <http://www.genome.gov/19517823>. • Ghr.nlm.nih.gov. N.p., n.d. Web. 14 Nov. 2012. <http://ghr.nlm.nih.gov/condition/achondroplasia>. • Health.nytimes.com. N.p., n.d. Web. 15 Nov. 2012. <http://health.nytimes.com/health/guides/disease/achondroplasia/overview.html>. • Marchofdimes.com. N.p., n.d. Web. 16 Nov. 2012. <http://www.marchofdimes.com/baby/birthdefects_achondroplasia.html>. • Medlink.com. N.p., n.d. Web. 18 Nov. 2012. <https://www.medlink.com/medlinkcontent.asp>. • Science.marshall.edu. N.p., n.d. Web. 16 Nov. 2012. <http://science.marshall.edu/murraye/341/Slide%20shows%202008/Human%20Genetics%20Achondroplasia%202008%20[Compatibility%20Mode].pdf>. • Thirdage.com. N.p., n.d. Web. 18 Nov. 2012. <http://www.thirdage.com/hc/c/achondroplasia-treatment>.

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