A young lady of 21 with BSyn, a top prize-winning gymnast throughout high school and college. Her adult height was 138 cm.

The Bloom’s Syndrome Registry

More than Half a Century of Successful Clinical and Basic Scientific Investigation. The Bloom’s Syndrome Registry is a cooperative effort in clinical and basic scientific investigation between (i) a certain small group of human geneticists and (ii) the population composed of the majority of persons ever identified who have autosomal recessively transmitted Bloom’s syndrome (BSyn). The population is small because the trait itself, although known to arise in many if not all national and ethnic groups, is itself very rare. The goal of the Registry is to characterize BSyn fully.

The tacit understanding between the Registrars and the registered population is that both parties benefit by cooperating in this attempt to find out as much as possible about this rare trait: (i) The investigating geneticists obtain fundamental biological information pertaining to maintenance of the integrity of our genetic material, how normally it faithfully replicates itself during the myriad cell divisions required for development and growth. Simultaneously, (ii) those registered benefit by being in close touch with physicians and geneticists who do have a long-standing interest in and a considerable understanding of BSyn, including an awareness of its important clinical complications, and who also are eager to communicate that information to those with BSyn.

Here is presented a concise description of the trait, prepared for affected persons and their families, their physicians, and scientists investigating BSyn or related conditions. Non-registered persons with BSyn, and physicians and geneticists who know of such individuals, are encouraged to contact the Registry.