Since this syndrome was first described by New York dermatologist David Bloom in 1954, over 170 individuals have been recognized as being affected. Bloom's syndrome is inherited as an autosomal recessive disease. Carriers of Bloom's syndrome do not manifest symptoms of the disease. The skin problem, which is aggravated by sun exposure, varies in severity. It may be quite disfiguring in some affected persons but mild or even absent in others, however it generally improves with age.
Intelligence is usually normal, although mild deficiency has occurred in a few affected persons.
Infertility is the rule in men with Bloom's syndrome, and fertility appears to be reduced in women. The risk of cancer is much greater than normal throughout life, of the variety of sites and types that affect the general population. There is no treatment for the underlying cause of Bloom's syndrome, and therefore medical intervention is primarily preventative. Adults with Bloom's syndrome should be more attentive than others in their surveillance for cancer, maintaining close contact with a physician knowledgeable about the syndrome, and paying particular attention to symptoms that could be early evidence of a treatable precancerous condition. Respiratory infections require prompt antibiotic treatment.