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Achondroplasia Dwarfism

Achondroplasia Dwarfism. By Noy A. Period 5. What Is Achondroplasia?. A bone growth disorder that results in abnormality of cartilage formation A mutation that occurs in about 1 out of 25,000 babies The mutation happens while a fetus is developing in its mother’s womb

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Achondroplasia Dwarfism

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  1. Achondroplasia Dwarfism By Noy A. Period 5

  2. What Is Achondroplasia? • A bone growth disorder that results in abnormality of cartilage formation • A mutation that occurs in about 1 out of 25,000 babies • The mutation happens while a fetus is developing in its mother’s womb • People with it are much shorter: average adult height is 4 to 3 ½ feet tall • It is inherited from the parents • People who have this disorder have the same intelligence as people who don’t A person with Achondroplasia

  3. What Are The Symptoms? • Prominent forehead • Bowed legs • Short stature • Curved spine • Shortened arms and legs • Large head-to-body size difference • Decreased muscle tone • Unusual hand appearance with space between the long and ring fingers An x-ray hand of a person who has achondroplasia

  4. If both parents have achondroplasia, and both have a recessive and a dominant allele, then there is a 75% chance that their child will have it, too. If both parents have achondroplasia, and one has both dominant alleles, then there is a 100% chance that their child has it, too. What Are The Chances Of Someone Getting Achondroplasia? * Note: if someone has both dominant alleles, they are most likely going to die before or shortly after birth. • If none of the parents has achondroplasia, there still is a chance that their kid will have it; if there is a mutation. If there is no mutation, then the child will not have it.

  5. Why Is Achondroplasia So Bad? • There is no cure for achondroplasia • Growth hormones and/ or surgery can help lengthen limbs, but therapy can cost from 10,000 to 25,000 dollars a year • There is fluid build up in the brain • Clubbed feet can make walking hard • Ear infections can lead to hearing loss • Respiratory infections make it difficult to breath

  6. Conclusion • Achondroplasia is a rare disease that includes bad infections and unusual shortness. It is genetic and begins in the mother’s womb. You can never be sure if a child will have achondroplasia or not. To lengthen limbs, hormones or surgery can help, but can be expensive. Achondroplasia is hard to live with because of breathing and walking difficulties.

  7. Bibliography • "Achondroplasia." N.p., n.d. Web. 15 Mar 2010. <www.bio.unc.edu/faculty/liljegren/lab/bio6D/Achondroplaisa.ppt>. • "Achondroplasia." Google Health. Google, n.d. Web. 14 Mar 2010. <https://health.google.com/health/ref/Achondroplasia>. • Riggs, Stephanie. Never Sell Yourself Short. Toronto, Canada: Albert Whitman & Company, 2001. 16. Print. • "Achondroplasia." University of Virginia Health System. University of Virginia Health System, November 6,2007. Web. 14 Mar 2010. <http://www.healthsystem.virginia.edu/UVAHealth/peds_diabetes/achondro.cfm>. • " Achondroplasia." Wikipedia. Wikipedia, March 12, 2010. Web. 14 Mar 2010. <http://en.wikipedia.org/wiki/Achondroplasia>. • Winkelman, Willem, and Rachel Buchholz. "KEEP STARING: I MIGHT DO A TRICK!." National Geographic Kids November 2004: n. pag. Web. 14 Mar 2010. <http://web.ebscohost.com/ehost/detail?vid=1&hid=2&sid=46ea17b1-908a-4014-b52f-58ffa4924c15%40sessionmgr14&bdata=JnNpdGU9ZWhvc3QtbGl2ZQ%3d%3d#db=mih&AN=15055198>.

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