Achondroplasia

By: Parker Mullen

Symptoms of the conditions

Acondition in which the growth of long bones by ossification of cartilage is retarded, resulting in very short limbs and sometimes a face that is small in relation to the skull.


1 in 15,000 people only get this disease. These people are effected by shortening of height, limited motion, enlarged head and smushed/ small fingers.

Characteristics

Symptoms of Achondroplasia are, shortening of the proximal limbs, short fingers and toes with trident hands, Large head with promoted forhead. Small midface with a flattened nasal bridge, and Frequently have ear infections.


Daily life with Achondroplasia is harder then regular height. They have to make adjustments to there houses and cars, to get around and are more eligible to reach higher places. It also gets very hard when walking/running on your feet and can lead to sever pain. Also to live with this disease cost money, a lot of check ups and medicine for pains and ect. Also this disease can lead to bad bullying.


Having Achondroplasia really only affects bones and growth in a body. This will not make you live any shorter or longer then a person with out achondroplasia.

Cause

The mutation in Achondroplasia is FGFR3. It makes a protein called fibroblast that helps the bones grow. But the fibroblast has worn out in the FGFR3 causing it not to provide any protein to the bone making it small.


The chromosome in achondroplasia is FGFR3, provides all the protein and even the minerals in in achondroplasia. In FGFR3 there is a fibroblast that reads instructions to make protein for bones can grow in a body.


The gene is a single gene disorder and is caused by spontaneous mutations in the FGFR3.

Treatment

The disease Achondroplasia has a treatment that the availability of somatotropin, (recombinant human growth hormone) has revolutionized the treatment. This has signs with in the first day for growth, And is proven to work, Although this is a very successful treatment is only temporary.


Cures for Achondroplasia can be, Hormones to increase height. Also maybe surgery to the spine to add height to your body.

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Other Facts

  • Achondroplasia is a dominate gene, meaning only one of FGFR3 needs to be mutated.
  • Fibroblast are cells that make the collagen and other structure materials in our tissues in bones.
  • The bones of embryos are made largely by cartlige, so they are soft.
  • Affected indivisuals reach a maximum of 120cm in there life.


Reason for name, is that achondroplasia is just a complex word for dwarfism, also meaning small.

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