Birth Defect: AchondroplasiaSarah SmythA genetic disease is a mutation caused by the absence of a gene or by the products of a defective gene. (“Genetic Disease”) (“What are Genetic Disorders?”) I chose to research achondroplasia because I thought it was interesting. I had never really heard of this disease before and I also wanted to do something different from other kids. Once I realized that this was a form of dwarfism, I really wanted to think about it more, because I knew there were many forms of dwarfism, and I wanted to see what this did. specific type. Achondroplasia, by definition, means a disorder. of cartilage formation in the fetus, leading to a type of dwarfism. (Miller and Brackman Keane 8)This genetic disorder affects one in 15,000 people or, in rarer cases, it can affect one in 40,000 live births. Most of the time, people with achondroplasia live normally, but some People can have serious bone problems that can lead to death sooner than expected. Achondroplasia is a genetic disorder caused by a mutation in the FGFR 3 gene, responsible for making a protein called fibroblast growth factor receptor 3, and is the only gene known to be linked to achondroplasia. The FGFR3 gene is also involved in the conversion of cartilage to bone. Cartilage, which makes up the human skeleton in the early stages of life, is strong but flexible. During ossification, the process that turns cartilage into bone, the body has difficulty transforming some cartilage into bone. This usually occurs in the largest and longest bones in the body, such as the long bones of the arms and legs. There is another genetic disorder similar to this called hypochondroplasia, but achondroplasia has characteristics comparable to achondroplasia. Clinical laboratories have tests for the FGFR3 gene. When a child is diagnosed with achondroplasia, parents should look for changes in bowel or bladder function, muscle weakness, and asymmetric reflexes or breathing problems. Many babies with achondroplasia have recurring ear infections. Some may need ear tubes, which are placed in the ear to allow air to enter the middle ear to reduce the risk of ear infections. Without these tubes, the baby could lose his hearing. The spinal cord may also be compressed, obstructing the upper airway and increasing the baby's risk of death. People with achondroplasia also have breathing problems, in which breathing stops or slows down for short periods of time. ("GeneFacts")Achondroplasia is a congenital anomaly that, unfortunately, is not subject to any specific treatment..