By: Parker Mullen
Symptoms of the conditions
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.
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.
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.
Cures for Achondroplasia can be, Hormones to increase height. Also maybe surgery to the spine to add height to your body.
- 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.