Achondroplasia

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Achondroplasia

• Dwarfism

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How to recognize achondroplasia

• Long narrow torso, with short extremities
• Large head with an oversized forehead
• Fingers shortened, middle and ring finger diverge
  to give the hand a trident shape
• Babies often lack muscle tone, and reach motor
  skill milestones slower.

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He does not.

• They have Dwarfism

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What Causes It?

• Achondroplasia is a result of an autosomal
  dominant mutation in the fibroblast growth factor
  receptor gene 3
• FGFR3 regulates bone growth, with achondroplasia
  it is constantly on causing extremely short bones

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Diagnosis

• Can be detected before birth using prenatal
  ultrasound
• Often can be seen in toddlers when growth is not
  at appropriate level, and their limbs and head
  are disproportionate

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Treatment

• There is no treatment at the current time
• HGH does not help as it does in others
• A limb lengthening surgery with lengthen the arms
  and legs, but is highly controversial and may
  lock their limbs to their torso

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Use of HGH (Human Growth Hormone)
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Interesting facts

• One of the oldest recorded genetic disorders
  they were regarded as very intelligent in ancient
  Egypt and often held high positions
• If you are under 4 10 Congratulations you are
  a little person

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Discrimination

• Often hard to get jobs
• Looked down upon Professor Paul Steven
  Miller

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Bibliography

• http//seattlepi.nwsource.com/local/200937_lawprof
  24.html
• http//www.medicinenet.com/achondroplasia/article.
  htm
• Science of Dwarfism. The Science Channel. 2007.