Achondroplasia Research Paper

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“Midget.” One of the cruelest words to call someone. The Little People of America foundation has been trying to remove the word from society’s dialect for years. You may not think so, but this word may have more meaning than you know. Someone you may think of as a “midget” may just have achondroplasia. Achondroplasia is more commonly known as dwarfism and people with it are known as Little People. It’s pretty self-explanatory, people with dwarfism are short. Someone with dwarfism has short limbs with particularly short thighs and upper arms. They also have short fingers with a large head and forehead. Achondroplasia means “without cartilage formation.” Dwarfism is caused when there is an issue during ossification. Ossification is the process where your cartilage is converted into bone material. The FGFR 3 gene is the gene that gives information for making a protein that is used to developing and maintain bone tissue. If there is a mutation in that gene, the proteins will be overactive and that will lead to disturbance in bone growth. There are many symptoms of achondroplasia. Infants with this disease usually have weak muscles and may have delays in the development of walking. When a dwarf reaches adulthood, they may still have trouble with walking and it …show more content…
It can be diagnosed based on ultrasounds before birth or by physical exams and radiographic findings at birth. Babies with achondroplasia may also be diagnosed based on their first steps. There aren’t many ways to treat achondroplasia. Spinal cord extensions could be necessary. Some people choose to lengthen their limbs but most institutes are against it due to deformities that may occur. Growth hormones can also be used to increase the height of patients. Achondroplasia is a genetic disorder so there aren’t many environmental factors that can cause the disorder. The little amount of factors that do exist may just be poor nutrition or deformities in other
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