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

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dwarf

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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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