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Achondroplasia

Achondroplasia. By: Samantha Lenz and Courtney Miller. Background / History. Achondroplasia also known as Dwarfism was discovered by ancient Egyptians. Egyptians with Achondroplasia were considered supernatural.

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Achondroplasia

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  1. Achondroplasia By: Samantha Lenz and Courtney Miller

  2. Background / History • Achondroplasia also known as Dwarfism was discovered by ancient Egyptians. • Egyptians with Achondroplasia were considered supernatural. • Pierre Maroteaux was the first scientist to mention dwarfism as a form of genetic disease. • He discovered the link between genetic condition and prenatal micromelic of the patients. • This discovery is known as Lamy-Maroteaux Syndrome, a topic that is very important to dwarfism.

  3. What is Achondroplasia? • Achondroplasia is a genetic mutation also known as dwarfism. • Commonly those with disorder are called: Small People

  4. What happens to those who have it? • People with achondroplasia have: • a normal sized torso • noticeably shorter arms and legs • usually larger heads • average height is just a little over 4 feet • spinal stenosis and curvatures • There is no specific cure but surgeries can be performed to get rid of spinal issues.

  5. What happens to those who have it continued... • Life expectancy: • If they have the abnormal gene from both parents the child is not expected to live past a few months. • If they just have the abnormal gene from one parent they are expected to live a normal life span. • There is no cure to Achondroplasia

  6. How is it passed on? • If a child gets the dominant trait from one parent, the child will have it. • If one parent has Achondroplasia the child has a 50% of getting it and if both parents have it the child has a 75% chance of getting it. • Most cases are spontaneous. meaning neither parent has it but gives birth to a child with it.

  7. Achondroplasia in the Spotlight • The TLC show Little People, Big World is a series that follows the six-members of the Roloff family. The TV show focuses on Matt and Amy a couple who has dwarfism and their four kids. • Their sons Zach and Jeremy are twins but Zach has achondroplasia dwarfism and Jeremy is regular sized. • Molly and Jacob are also both regular sized.

  8. Fun facts • Achondroplasia is a greek word meaning "without cartilage formation" • it is the most common type of dwarfism, affecting 80% of these people • most people are double jointed

  9. Works cited "Health Guide." Achondroplasia. N.p., n.d. Web. 19 Feb. 2013. <http://health.nytimes.com/health/guides/disease/achondroplasia/overview.html>. "TeensHealth." Dwarfism. N.p., n.d. Web. 19 Feb. 2013. <http://kidshealth.org/teen/diseases_conditions/growth/dwarfism.html>.

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