Achondroplasia by: Ashley youngquist

Achondroplasia is a disorder of bone growth. This is the most common type of dwarfism. It is caused my a gene mutation in the FGFR3 gene. The FGFR3 gene makes a protein called fibroblast growth factor receptor 3 that causes cartilage to form into bones. To get Achondroplasia, you have to have a normal copy of the FGFR3 gene and a mutated copy of the FGFR3 gene. Eighty percent of people that have this disorder are due to new mutations meaning that neither of the parents have the disorder. The disorder can also be passed on to future generations.

Someone that has Achondroplasia could be born and developed with a short stature with short arms and legs, short fingers, a large head and their forehead is the most prominent facial feature. The still live and have the same intelligence level as the average human. People with this disorder commonly having breathing problems and they are born with really weak muscles and bones.

Achondroplasia is diagnosed by X-rays or genetic testing. There is not a specific treatment for the disorder. Children born with this disorder have to carefully be monitored. In some cases people may have to have surgery called suboccipital decompression and is performed to decrease pressure on the brain.

Citations:

Learning About Achondroplasia. (2016, July 15). Retrieved March 02, 2017, from https://www.genome.gov/19517823/#al-5

Stöppler, M. M. (2015, November 5). Achondroplasia: Facts on Treatment and Life Expectancy. Retrieved March 02, 2017, from http://www.medicinenet.com/achondroplasia/article.htm

Created By
Ashley Youngquist
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Created with images by Office of Governor Dan Malloy - "Bill Signing Ceremony for An Act Designating Spinal Muscular Atrophy with Respiratory Distress Awareness Day and Dwarfism Awareness Month"

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