ACHONDROplasia

Causes

• Achondroplasia is the result of an autosomal dominant mutation in the fibroblast growth factor receptor gene 3
• FGFR3 regulates bone growth, and with Achondroplasia, the mutation causes irregular short bones

Symtoms

• Long narrow torso
• Oversized head with large forehead
• Shortened fingers, with the middle and ring finger diverging
• Overall Shortness.

Diagnosis

• Can be detected during pregnancy via prenatal ultrasound.
• Slow growth and infants and disproportionally sized body.

Treatment

• There is no treatment available at this time
• HGH(human growth hormone does not help
• A limb lengthening surgery is available, lengthens both arms and legs. Though it is highly controversial due to the risk of the limbs locking up in the torso

Facts

• 1 in 30000 people will get Achondroplasia
• You are technically considered a dwarf if you are shorter than 4 ft and 10 in
• 1 in 10000 cases of Achondroplasia, will result in a natural deaths
• Ancient Egyptians considered dwarfs to have a higher intelligence than most thus causing them to usually hold high positions of power.
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