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Achondroplasia dwarfism

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					Achondroplasia (dwarfism)


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                                  Medical
•   Achondroplasia is a dominant, autosomal mutation. One would inherit this condition if
    the parents carried the gene
•   80% of the cases, people with dwarfism have normal parents that simply acquired the
    gene over time. There is really only one genotype for this condition and it is
    heterozygous because if a fetus was homozygous dominant, the child would die shortly
    after birth.
•   This disease has a prevalence of ~1: 25,000
•   A person with Achondroplasia has a 50% chance of passing the mutation on to their
    offspring, 25% chance of having a normal child, and a 25% chance of the child dying
    shortly after birth
•   Achondroplasia is diagnosed with a prenatal ultrasound and the condition is diagnosed
    by looking at the skeletal structure, and a DNA test to detect if the child has both of the
    dominant chromosomes
•   This condition’s symptoms are the following:
      – Short stature
      – Shortening of the limbs
                                                                     AA          Aa
      – Large head and forehead
                                                                     stillbirth dwarf
      – Abnormal spinal curvature
      – Bowlegged or knock knee deformities                          Aa          aa
      – Frequent ear infections                                      dwarf       normal
      – Sleep apnea
                           Medical cont.
•   Most people with Achondroplasia have a normal life expectancy
•   This disease is often treated by the controversial method of limb lengthening which
    repeatedly breaks the bones of the limbs and and separates the 2 sides of the bone,
    allowing the limb to heal which makes it longer.
•   Scientist are currently doing research on the
    protein that is affected in Achondroplasia which
    could lead to a better understanding of the condition
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                                  Personal
•   People afflicted with achondroplasia are often subject to public scrutiny due to their
    stature and often take a lot of abuse from people who do not understand the condition
•   The physical limitations are pretty obvious, we live in a world built for average sized
    people and being a dwarf can cause some difficulties like not being able to reach things.
•   Some organizations that help with dwarfism are
      – Little people of america: www.lpaonline.org
      – www.shortsupport.org
      – Little people’s research fund: www.lprf.org
      – Human growth foundation: www.hgfound.org
      – March of dimes birth defects foundation: www.marchofdimes.com
                                           Bibliography

•   en.wikipedia.org/wiki/achondroplasia
•   www.medicinenet.com/achondroplasia/article.htm

•   www.marchofdimes.com/professionals/14332_1204




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