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Achondroplasia: Dwarfisim

Sympotms and Signs of Dwarfisim
There are over 200 symptoms for dwarfisim. One of the main symptoms is the body size. Its usually smaller than the proper porportion. Some body parts are smaller but some can be normal. The overall size of the body is small as well as the body parts.
  • Slow growth before the age of 5
  • Adult height is usually under 5 feet
  • Delayed or no sexual development during adolescence
  • Short arm and short legs
  • Limited mobility at the elbows
  • A disproportionatley large head
  • Puffy hands and feet at birth
  • Excess skin at the neck at birth
  • Kidney problems
  • Defects of heart and blood vessels
  • No development of the breasts during puberty
  • Slightly flattened cheekbones
  • Feet twisted or not in shape
  • Hunching
Problems with hearing and vision
Most treatments dont increase stature but do relieve complications. Common surgical procedures are
  • Inserting metal staples into the ends of long bones where growth occurs (growth plates) in order to correct the direction in which bones are growing
  • Dividing a limb bone, straightening it and inserting metal plates to hold it in place
  • Inserting rods or staples to help correct the shape of the spine
Increasing the size of the opening in bones of the spine (vertebrae) to alleviate pressure on the spinal cord

How it is Inherited
This disorder actually occurs when the cartilage has a difficult time turning into bone which causes the dwarfisim.There are two ways you can get this genetic disorder.
  • You can simply inherit the gene from your parents.
  • Or there is a mutation in the fibroblast growth receptor 3 gene

Intresting Facts
  • This condition occurs in 1 in 15,000 to 40,000 newborns.
  • The word Achondroplasia really means without cartilage formation.
  • About 80% of kids that suffer from this disorder have normal sized parents.
  • If a new born inherites the gene from both parents then the baby has a sever form of the disorder, so the baby usually only has about less than12 months to live.
  • If both parents have the disorder then the chile has a 75% chance of getting the gene.
  • If one parent has the gene then the baby has a 50% chance of recieving the gene.
  • Achondroplasia is inherited in an autosomal dominant pattern.

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Work Cited