Birth Defect: AchondroplasiaSarah SmythA genetic disorder is a mutation caused by the absence of a gene or the products of a defective gene. (“Genetic Disorder”) (“What are Genetic Disorders?”) I chose to research achondroplasia because I thought it was interesting. I had never heard of this disease before and I also wanted to do something different than other kids. Once I realized that it was a form of dwarfism, I wanted to look into it further, because I knew that there were many forms of dwarfism and I wanted to see what this specific type does. 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 condition affects one in 15,000 or, on rarer occasions, can affect one in 40,000 live births. In most cases, people with achondroplasia live normal lives, but some people can have serious bone problems that can lead to an earlier-than-expected death. Achondroplasia is a genetic disease caused by a mutation in the FGFR 3 gene, which is responsible for producing 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 hard but flexible. During ossification, the process that converts cartilage into bone, the body has difficulty converting some cartilage into bone. This usually happens in the larger, longer bones of the body, such as the long bones of the arms and legs. There is another genetic disease similar to this one, called hypochondroplasia, but achondroplasia has characteristics like 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 children with achondroplasia have difficulty recurring ear infections. Some may need ear tubes, which are placed in the ear to allow air into the middle ear and help reduce the chance of ear infections. Without these tubes, your child may lose hearing. The spinal cord can also be compressed, obstructing the upper airway and increasing the risk of death for the baby. People with achondroplasia also have breathing problems, in which breathing stops or slows for short periods of time. ("GeneFacts")Achondroplasia is a congenital defect that unfortunately does not require any specific treatment.