Bloom's Syndrome

A genetic disease is an illness caused by a defect in a person’s genes. Some of these disorders are rare and some are quite common depending on race, heritage, and even gender. Bloom’s Syndrome is a rare genetic disease known for affecting someone’s physical and genetic traits, this disorder can cause problems for whoever is diagnosed with it. Bloom’s Syndrome is a disease characterized by how its identified, its frequency, how it was discovered, its symptoms, and its treatments. Bloom’s Syndrome is identified as an autosomal disorder. An autosomal disorder is when the defected gene is carried on a chromosome other than one of the sex chromosomes. Bloom’s Syndrome happens to be an autosomal recessive disorder, which causes this disorder
People with Bloom’s Syndrome are small before birth and after birth. People with this disorder usually don’t exceed five feet tall and are smaller in height and weight than 97% of the population. Body proportions and muscle development seem to be normal, but children and young adults have very small amounts of fat. These traits make them very graceful. “Sometimes, these signs are accompanied by a reddish facial rash that is due to the dilation of very small blood vessels (telangiectasia) of the face. The rash typically appears in a “butterfly” pattern on the cheeks and across the nose.”(NORD, 2016). People with Bloom’s Syndrome have very sensitive skin that usually becomes red upon exposure to sunlight. They also have problems with their immune system causing in increase in ear infections and pneumonia. Those with Bloom’s Syndrome also have an increased risk of getting cancer; they tend to get cancer earlier in life and can be diagnosed with any kind. They also have an increased risk of being diagnosed with more than one type of cancer. “Cancer frequently occurs between their 10th and 40th years.”(Carlson, 1984, p.304) Men with this syndrome cannot produce sperm most of the time and women experience menopause at an earlier age than