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Mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene (above) have been linked to achondroplasia, or dwarfism. Sperm analysis shows that mutations associated with dwarfism gradually increased by about two per cent for every year of age.

Persons with achondroplasia have a 50 percent chance to pass the gene to a child, resulting in the condition. If both parents have achondroplasia, with each pregnancy, there is a 50 percent chance to have a child with achondroplasia, a 25 percent chance that the child will not inherit the gene and be of average height, and a 25 percent chance that the child will inherit one abnormal gene from each parent, which can lead to severe skeletal problems that often result in early death.

Physical Symptoms

The most obvious physical symptoms might be:
  • abnormal hand appearance with the persistent space between the long and ring fingers
  • bowed legs
  • decreased muscle town
  • disproportionately large head-to-boy size difference
  • prominent forehead
  • shortened stature 
  • spinal stenosis
  • spine curvatures
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