Achondroplasia Essay

Achondroplasia is defined as without cartilage formation. Meaning that cartilage is a tough one but it is also an flexible tissue that makes up much of the skeleton during early developments. It’s an bone growth disorder that causes disproportionate dwarfism. As of dwarfism, it’s an condition of short stature as an adult. There are problems dealing with achondroplasia and the problem is it not forming cartilage but it is converting it to a bone. The process of forming the cartilage and converting it to a bone in the long bone of the arms and legs is ossification. While achondroplasia is similar to other skeletal disorder such as hypochondroplastic. But achondroplasia is the only one with features that tend to be more severe. People who suffer …show more content…
Has an 50 percent chance with each pregnancy. The chance for an parent with their child having achondroplasia is an normal stature is 25 percent. As of having a child who inherits the gene mutation from both individual parent is 25 percent. Dealing with homozygous achondtoplasia, is an condition that leads to death. Achondroplasia is diagnosed by each individual by clinical and x-ray. While individuals who could be too young or to be certain to make a diagnosis. But the thing about achondroplasia dwarfing, they have a normal sized torso and short limbs. The testing can be done by using a mutation to identify the FGFR3 gene. By testing it the test can identify mutations in 99 percent of individuals who have achindroplasia. Being available in clinical laboratories. There has been researcher that have found out that the gene responsible for achondroplastic dwarfing is on chromosome 4. It’s also the same chromosome that is known to carry a gene encoding meaning it’s a receptor that binds human grown hormone. Receptors are proteins in the plasma membrane but when they bind a hormone they undergo a change in their three-dimensional structure that triggers a response inside the