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 < achondroplasia.html>.
Genome.gov. N.p., n.d. Web. 17 Nov <
Ghr.nlm.nih.gov. N.p., n.d. Web. 14 Nov <
Health.nytimes.com. N.p., n.d. Web. 15 Nov <
Marchofdimes.com. N.p., n.d. Web. 16 Nov <
Medlink.com. N.p., n.d. Web. 18 Nov <
Science.marshall.edu. N.p., n.d. Web. 16 Nov < asia%202008%20[Compatibility%20Mode].pdf>.
Thirdage.com. N.p., n.d. Web. 18 Nov <