Dwarfism

By: Samantha Hoge

Statistics on Dwarfism

  • 1 in every 200,000 are affected by dwarfism.
  • There are an estimated 30,000 people in the United States and 651,000 internationally with a type of dwarfism

Some Famous People Who Are Affected by Dwarfism

Dwarfism is Interesting

Dwarfism Karyotype

Dwarfism often develops randomly and only 20% of the time is inherited.

Dwarfism Facts

  • The average height for someone affected by dwarfism is 4' 4" while the average height for one not affected by dwarfism is 5' 10".
  • Mutations in the gene FGFR3 cause achondroplasia or the most common form of dwarfism.
  • It is caused by a gene alteration.
  • The word achondroplasia literally translates to without cartilage formation.
  • The protein this mutation alters is fibroblast growth factor receptor 3.
  • People who suffer from dwarfism usually have normal life spans.
  • It can usually be found through testing in over 99 percent of those who suffer from it.
  • Hypotonia is prevalent in dwarfs and generally causes weak muscle tone compared to those with normal FGFR3 functions.
  • Many dwarfs have breathing problems.
  • They appear to have short arms, fingers, and legs, a large head and often have prevalent foreheads.
  • In most cases it is not inherited.

Normal

The normal function of FGFR3 helps in determining cell types, creating blood vessels, embryo development, wound healing, and cell growth and division.

Diagnosis

"Achondroplasia is diagnosed by characteristic clinical and X-ray findings in most affected individuals. In individuals who may be too young to make a diagnosis with certainty or in individuals who do not have the typical symptoms, genetic testing can be used to identify a mutation in the FGFR3 gene.

Genetic testing can identify mutations in 99 percent of individuals who have achondroplasia. Testing for the FGFR3 gene mutation is available in clinical laboratories."

-Learning About Achondroplasia

Treatment

There is a very small range of treatments for dwarfism. One of these treatments is the human growth hormone, somatropin. This is the medicinal route for treatment. There are also several surgical routes for treatment of dwarfism. One of these is limb lengthening which is where which is where they stretch out the limbs until the plates lengthen. This method is frowned upon by Little People of America as well as other dwarf supportive organizations. Other methods seem to be more approved by them such as neurosurgery, genu varum, and spinal canal stenosis. These all attempt to lengthen the limbs or stretch the space between vertebrae in the back.