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• 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
• 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
• 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 Aa aa
– Frequent ear infections dwarf normal
– Sleep apnea
• 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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• 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
– Little people’s research fund: www.lprf.org
– Human growth foundation: www.hgfound.org
– March of dimes birth defects foundation: www.marchofdimes.com
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