acondroplasia essays

acondroplasia essays Acondroplasia A Genetic Bone Disorder There are hundreds of reasons why some children never reach expected heights as adults. Many are short in stature because of family or ethnic backgrounds. Others have a wide range of medical conditions, which are often at times genetic, that limit overall growth in all or just specific parts of the body, such as the limbs or the torso. One of the medical conditions is Acondroplasia, the most common bone or skeletal disorder. What is Acondroplasia? Acondroplasia, or Dwarfism, is a genetic disorder of bone growth that is evident at birth. It affects about one in every 20,000 births and it occurs in all races and in both male and female genders. It is estimated that there are about 10,000 individuals with this disorder in the United States. When a person has Acondroplasia, abnormal cartilage at the growth plates of the bones in the body causes their short stature. Men with this disorder are usually less than 52 inches tall and women are somewhat shorter. Acondroplasia is caused by an abnormal gene, or in other words, mutation, that is located on chromosome 4 pair (humans have 23 pairs of chromosomes). The condition may be passed on from one generation to the next or it may just simply result from a new mutation in a gene from an average sized parent. Nine out of ten children who are born with Acondroplasia have average sized parents. It is not possible to have a little bit of Acondroplasia, or only a touch of it. A person either has it or does not. In 1994, Dr. John Wasmuth and his colleagues discovered that the mutation of the fibroblast growth factor receptor-3 (FGFR3) gene on human chromosome 4 does indeed cause Acondroplasia, but the exact way in which the mutation in FGFR3 causes Acondroplasia is not yet known. Some of the signs and symptoms of Acondroplasia is that the individual has a large head with a prominent forehead, a low br...