Achondroplasia
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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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Achondroplasia

Achondroplasia

By Jake Armus


Brief history

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


Phenotypic effects

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


How is it diagnosed

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.


Can it be passed down

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%


Treatments

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)


Bibliography

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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