Edwards Syndrome

If you are interested in learning about genetic disorders, you might want to consider researching information on Edwards Syndrome (which is also known by the name of Trisomy 18). Edwards Syndrome is a relatively rare condition that results due to the duplication of chromosome 18 within a person. In the vast majority of instances, individuals with Edwards Syndrome pass away within the fetal stage. Occasionally, infants with the disorder experience severe birth defects and then only survive for extremely brief durations.

1. Cause - People with Edwards Syndrome inherit the wrong number of chromosomes. Human body cells consist of twenty-three chromosome pairs. Instead of just two versions of chromosome 18, people with the condition instead inherit three versions. The inheriting of three versions is known as a "trisomy." The additional chromosome 18 material is acquired post-egg fertilization.
2. Risk Factor - Girls are more at risk for developing the genetic disorder. Edwards Syndrome is significantly less common in boys than in girls, although it can occur in both genders.
3. Symptoms - Several key symptoms are associated with Edwards Syndrome. These symptoms include malformed and low-set ears, clenched hands, low weight at birth, crossed legs, small jaw, mental deficiency, rocker-bottom feet, nails that are underdeveloped, small head and abnormally-shaped chest (which is called "pectus carinatum."
4. Prognosis - As stated before, babies that have Edwards Syndrome do not live very long. The survival rate is typically less than six months. Only a very small percentage survive past one year of age. In extremely rare cases, people with the disease have lived to the teen years, although with severe developmental and medical issues.
5. Treatment - No treatment exists yet in medical science for Edwards Syndrome. People with the condition are generally handled on a case-by-case and personalized basis. Some of the problems associated with the syndrome can be managed with surgery, although the procedures can often be invasive and risky for young and delicate infants.