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Achondroplasia Dwarfism

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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 ... – PowerPoint PPT presentation

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Title: Achondroplasia Dwarfism


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 mothers 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 dont

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
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 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.
  • 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 mothers 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.
    ltwww.bio.unc.edu/faculty/liljegren/lab/bio6D/Achon
    droplaisa.pptgt.
  • "Achondroplasia." Google Health. Google, n.d.
    Web. 14 Mar 2010. lthttps//health.google.com/healt
    h/ref/Achondroplasiagt.
  • 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.
    lthttp//www.healthsystem.virginia.edu/UVAHealth/pe
    ds_diabetes/achondro.cfmgt.
  • " Achondroplasia." Wikipedia. Wikipedia, March
    12, 2010. Web. 14 Mar 2010. lthttp//en.wikipedia.o
    rg/wiki/Achondroplasiagt.
  • Winkelman, Willem, and Rachel Buchholz. "KEEP
    STARING I MIGHT DO A TRICK!." National
    Geographic Kids November 2004 n. pag. Web. 14
    Mar 2010. lthttp//web.ebscohost.com/ehost/detail?v
    id1hid2sid46ea17b1-908a-4014-b52f-58ffa4924c1
    540sessionmgr14bdataJnNpdGU9ZWhvc3QtbGl2ZQ3d3
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