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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– Large head and forehead– Abnormal spinal curvature– Bowlegged or knock knee deformities – Frequent ear infections– Sleep apnea AA
stillbirth
Aa
dwarf
Aa
dwarf
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normal
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
and perhaps even a cure.QuickTime™ and a
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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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