Friday Facts! Bloom Syndrome

Welcome to Friday Facts! here on the Knowledge Safari blog. Each week we aim to shine the spotlight on various segments of special needs in order to raise awareness and provide information. Today we focus on Bloom Syndrome.

Click here for more and the following information is taken from NORD.

Bloom syndrome is a rare genetic disorder characterized by short stature; increased sensitivity to light (photosensitivity); multiple small dilated blood vessels on the face (facial telangiectasia), often resembling a butterfly in shape; immune deficiency leading to increased susceptibility to infections; and, perhaps most Importantly, a markedly increased susceptibility to cancer of any organ, but especially to leukemia and lymphoma. Some clinicians classify Bloom syndrome as a chromosomal breakage syndrome; that is, a disorder associated with a high frequency of chromosomal breaks and rearrangements. It is suspected that there is a link between the frequency of chromosomal breaks and the increased propensity toward malignancies. Bloom syndrome is inherited as an autosomal recessive genetic trait.

It is often included among the Jewish genetic diseases.

Bloom's Syndrome Registry

Weill Cornell Medical College1300 York AvenueNew York NY 10065Phone #: 212-746-3956800 #: --e-mail: jlg2003@med.cornell.eduHome page: http://www.med.cornell.edu/bsr/