Tuesday, December 14, 2010

Achondroplasia- Doctor's Report

Doctor’s Report
  • The symptoms of Achondroplasia usually include shortened fingers and limbs, large difference between head and body size, and spine curvature.
  • While the dominant gene may be passed down from the parents it is possible for the child’s FGFR3 (fibroblast growth factor receptor 3) gene to develop a mutation causing the defect.
  • Prevention may be possible if one or both parents have Achondroplasia but because of it’s spontaneity it isn’t entirely possible to completely prevent it.
  • Fortunately the defect only appears in every 15,000 to 40,000 newborns.
  • Because the effects of Achondroplasia limit the child's growth, they might require assistance with things such as opening doors by using a stool.
 
 

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