One in every 15,000 to 40,000 children have the disease known as achondroplasia. Achondroplasia is a genetic disease that occurs because of a mutation in the gene FGFR3 and is also the most common form of dwarfism known. The purpose of the gene FGFR3 is to make the proteins that are vital in the formation of bone tissue within the body. Because of this mutation people with achondroplasia have significantly shorter limbs than the normal person making them significantly shorter than most people in today’s society. There are also other symptoms that people with achondroplasia have as well as illnesses that people with achondroplasia are more prone to get.
Unlike many other diseases achondroplasia is a disease that is diagnosed at birth. Since …show more content…
People with achondroplasia have a higher chance of having nerve damage as a result of their spinal cord being compressed. They also have an increased chance of having abnormal flow of fluid between their brain and their spinal cord. This could be very dangerous if not treated however this complication is not very common. The most common side effect is ear infections. People with achondroplasia are more prone to having severe middle ear infections. This only occurs in young children and they must be carefully monitored because if these ear infections go without treatment the child will experience hearing loss. Infants with achondroplasia sometimes will experience motor development delays however once the child reaches about one or two and for the rest of childhood development they are on par with their peers. Due to people with achondroplasia being significantly smaller than most humans they are much more likely to become obese this is because they are so much smaller than other people and don’t need as much food and fat has less places to go because they are smaller resulting in obesity. One of the least common and most serious complications associated with achondroplasia is hydrocephalus. Hydrocephalus is …show more content…
This mutation is found in a gene in one of the 22 non-sex chromosomes. The genetic mutation is in the gene known as FGFR3. FGFR3 is a gene that holds information on how to make proteins that are vital in the construction of bone tissue within the body. There are two particular mutations in this gene that cause the disease achondroplasia. These mutations in the gene makes the proteins become excessively active which generates complications in the formation of bone tissue and results in dwarfism. The word achondroplasia means without cartilage formation because people who have achondroplasia have trouble converting cartilage into bone; although they do not have trouble creating cartilage itself. Ossification is the name of this specific process people with achondroplasia have trouble completing effectively. The inability for the proteins to convert cartilage to bone makes their bones not grow to a normal
Unlike many other diseases achondroplasia is a disease that is diagnosed at birth. Since …show more content…
People with achondroplasia have a higher chance of having nerve damage as a result of their spinal cord being compressed. They also have an increased chance of having abnormal flow of fluid between their brain and their spinal cord. This could be very dangerous if not treated however this complication is not very common. The most common side effect is ear infections. People with achondroplasia are more prone to having severe middle ear infections. This only occurs in young children and they must be carefully monitored because if these ear infections go without treatment the child will experience hearing loss. Infants with achondroplasia sometimes will experience motor development delays however once the child reaches about one or two and for the rest of childhood development they are on par with their peers. Due to people with achondroplasia being significantly smaller than most humans they are much more likely to become obese this is because they are so much smaller than other people and don’t need as much food and fat has less places to go because they are smaller resulting in obesity. One of the least common and most serious complications associated with achondroplasia is hydrocephalus. Hydrocephalus is …show more content…
This mutation is found in a gene in one of the 22 non-sex chromosomes. The genetic mutation is in the gene known as FGFR3. FGFR3 is a gene that holds information on how to make proteins that are vital in the construction of bone tissue within the body. There are two particular mutations in this gene that cause the disease achondroplasia. These mutations in the gene makes the proteins become excessively active which generates complications in the formation of bone tissue and results in dwarfism. The word achondroplasia means without cartilage formation because people who have achondroplasia have trouble converting cartilage into bone; although they do not have trouble creating cartilage itself. Ossification is the name of this specific process people with achondroplasia have trouble completing effectively. The inability for the proteins to convert cartilage to bone makes their bones not grow to a normal