Research Paper On Bloom Syndrome

Bloom syndrome is a rare genetic disorder. Usually due to this disease a skin rash may occur after exposure to the sun, and chance of cancer is largely increased. A New York dermatologist named David Bloom discovered the syndrome, hence the name, in 1954. Since the discovery, there have been more than 170 case reports for this disorder just in the United States. There are a variety of symptoms for this disorder. Usually the first physical symptom of bloom syndrome is growth delay. Over 50% of children with bloom syndrome are significantly underdeveloped in stature appearance until they are eight years old whereas adults with bloom syndrome have short stature. They typically have long limbs and disproportionately large hands and feet. Mutations
in the BML gene located on chromosome 15 are what cause Bloom Syndrome. As far as testing goes, to be diagnosed with this disorder must be confirmed by analysis of the BML gene. Currently there is no specific treatment for Bloom Syndrome however using sunscreen and avoiding sun exposure may help reduce some symptoms. This also increases the risk of premature death in the second or third decade occur secondary to malignancies. Due to this being a recessive inherited disorder, this means that both the parents need the gene for the child to get it. If a person has one affected gene it's called a carrier of Bloom Syndrome and doesn't show symptoms of the disease. If both parents are carriers, there is a 1 in 4 chance of having an affected child.