Bloom’s Syndrome Registry

The Bloom’s Syndrome Registry (BSR) is a research effort dedicated to collecting clinical and genetic information about Bloom’s syndrome, a rare inherited disorder characterized by short stature; a sun-sensitive redness in a «butterfly pattern» on the face; and susceptibility to infections and proness to develop cancer of many types. Established in 1960, the Bloom’s Syndrome Registry meets with affected individuals and their families, compiles information concerning their pedigree history, and collects and preserves DNA and biological specimens. In addition, the registry maintains copies of affected individuals� medical records and updates these records with new clinical findings and medical progress. The registry conducts ongoing research using registry data and specimens and publishes regular reports and reviews in medical journals.