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Achondroplasia

Achondroplasia. By: Tyler Denney, Avery Falick, Valerie Finstad, Matt Lien. Type of Genetic Disorder. Achondroplasia is an autosomal dominant genetic disorder. Over 80% of people with Achondroplasia have parents that are totally unaffected! It is caused by a gene mutation.

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Achondroplasia

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  1. Achondroplasia By: Tyler Denney, Avery Falick, Valerie Finstad, Matt Lien

  2. Type of Genetic Disorder • Achondroplasia is an autosomal dominant genetic disorder. • Over 80% of people with Achondroplasia have parents that are totally unaffected! • It is caused by a gene mutation.

  3. Karyotype or Pedigree?

  4. Inheritance • 80% of people with Achondroplasia have parents who have normal height. • The Achondroplasiacs have the disease because of a gene mutation.

  5. Diagnosis • It is based on typical physical features that are evident at birth. • Sometimes you can see the symptoms through an Ultra Sound.

  6. Symptoms • Short arms and legs • Large head • Relatively long narrow torso • Decrease in muscle tone • Run behind schedule in learning motor skills • Limited movement of joints

  7. Treatment • There is no real proven treatment • It can be managed: • Monitoring of height, weight, and head circumference • If there are any complications, they must be taken care of immediately • Women with Achondroplasia should have a cesarean birth.

  8. Life Expectancy • Life span is normal • Characteristics can cause increased risk of death at birth.

  9. Genetic Counseling • Scientist are looking for gene therapy to stop the disease before the child is born.

  10. Current Research • Trials are constantly being conducted. • The tests determine effectiveness and safety of new drugs.

  11. Interview With Sandy of the Little People of America • Q: How would having Achondroplasia change your life? • A:It limits it but, does not change it. • Q: In what ways would having Achondroplasia limit you in life? • A:Achondroplasia makes reaching for things difficult and it is hard to go out in public.

  12. Graphics

  13. Works Cited • The Centre for Genetics Education. “Anchodroplaisa and Other Short Stature Syndromes.” 1/21/09 <http:genetics.com.au/factsheet/fs38. html>. • Francomano, Clair A. “Achondroplaisia.” 1/16/09. <http://www.geneclinics.org/profiles/a chondroplasia/details.html>.

  14. Works Cited …again • “Short”. 1/23/09. <http://www.flickr.com/photos/pantagr apher/243/4068>. • “Clinical Trials for Achondroplasia”. 1/23/09. <http://www.wrongdiagnosis.com/a/ac hondrplasia/trials.htm>.

  15. Works Cited… again • 1/23/09.<http://www.racematters.org/little peoplebigworld.htm>. • “World’s Smallest Person”. 1/23/09. <http://www.oursoldiersvalor.com/pers onal/worlds-smallest-person/>. • Sandy of Little People of America. 1/26/09

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