NORD gratefully acknowledges Chris Cunniff, MD, Director of the Bloom’s Syndrome Registry, and Amir R. Djavid, BA, Research Assistant at the Bloom’s Syndrome Registry, for assistance in the preparation of this report.
Bloom syndrome is a rare genetic disorder characterized by short stature; increased skin sensitivity to ultraviolet rays from the sun (photosensitivity); multiple small dilated blood vessels (telangiectasia) over the nose and cheeks resembling a butterfly in shape; mild immune deficiency with increased susceptibility to infections; and most importantly, a markedly increased susceptibility to many types of cancer, especially leukemia, lymphoma and gastrointestinal tract tumors. Bloom syndrome is a prototype of a group of genetic conditions known as chromosome breakage syndromes. The genetic abnormality in Bloom syndrome causes problems with DNA repair, resulting in a high number of chromosome breaks and rearrangements. The abnormal DNA repair is responsible for the increased risk for cancer.
Bloom syndrome is inherited as an autosomal recessive genetic trait. It is often included among the Jewish genetic diseases.
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