Mutation In Fgfr 3 Causes Acondroplasia example essay topic

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 Was muth and his colleagues discovered that the mutation of the fibroblast growth factor receptor-3 (FGFR 3) gene on human chromosome 4 does indeed cause Acondroplasia, but the exact way in which the mutation in FGFR 3 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 bridge of the nose, disproportionably short arms and legs, curvature of the spine, known as kyphosis and bowlegs. Children with Acondroplasia develop slowly.

Good head control may not occur until they are three to four months of age and are not able to walk until they reach the ages between 24 to 36 months. Overall the development is usually normal except for the slowness of bone control and or growth. Weight control is a frequent and lifelong problem for many individuals with this disorder because they are prone to add excess weight, which can lead to serious respiratory problems. Others may develop back or knee problems.

They may also experience neurological problems because of the spinal cord compression. The good news is that Acondroplasia does not cause learning disabilities or shorten life span. There is nothing that can be done to prevent Acondroplasia, although it can be diagnosed before birth by a pregnancy ultrasound on the mother or DNA testing is also possible. Affected individuals can pass on the condition to their children but there are no risks to others because Acondroplasia is not contagious. There are treatments that may be needed on some individuals suffering from Acondroplasia, surgery is needed on some to treat spinal cord compression, but surgery carries the risks of bleeding and infection, which can be dangerous in many cases and can lead to early death. There are two major organizations that are concerned with the needs of individuals with growth problems and their families.

The Human Growth Foundation (HGF) and the Little People of America (LPA). Both groups serve as sources of information, counseling, and support, and offer opportunities for parents to meet others facing similar challenges, such as having a child with Acondroplasia disorder. Each organization has close contact with medical assistance to help individuals in need. In conclusion, it is important for people with Acondroplasia to recognize that a wide range of choices and or jobs does exist for them and that their condition does not have to prevent them from leading a full and satisfying life. THINK BIG ENCOURAGEMENT (motto of the Little People of America).