Bloom syndrome (Genetic disorder)

Bloom Syndrome Individuals with Bloom syndrome have short stature, sun-sensitive facial skin lesions, an increased susceptibility to infections and respiratory illness, and an increased predisposition to gastrointestinal cancers and leukemia. Some individuals with Bloom syndrome also have intellectual disabilities. Individuals with Bloom syndrome usually die at an early age, but some have survived until their forties. Men with Bloom syndrome are usually infertile, and fertility appears to be reduced in women. Bloom syndrome is a rare disease that is most common in people of Ashkenazi Jewish ancestry. Approximately 1 out of every 100 people of Ashkenazi Jewish ancestry is a carrier of this disease, which is caused by a change in a gene located on chromosome 15. Bloom syndrome is considered a “chromosome breakage“ disease. This means that affected individuals have an increased rate of breakage and rearrangements of their chromosomes. Chromosomes are the structures in each of the cells in our body that contain our genes. Genes produce proteins and guide the development and maintenance of the body. Early diagnosis of this disease can be helpful in monitoring and treating the manifestations of Bloom syndrome. Affected individuals should have increased cancer surveillance and should also decrease their exposure to sunlight and X-rays, which may cause damage to their chromosomes.