Disease Information for Bloom syndrome

An autosomal recessive disorder characterized by telangiectatic erythema of the face, photosensitivity, dwarfism, and other abnormalities;-----------------------------------------------Bloom Syndrome; BS;

Bloom-Torre-Mackacek Syndrome; Dwarfism, Levi"s Type

Short Stature and Facial Telangiectasis; Short Stature, Telangiectatic Erythema of the Face; 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-----------------[NORD 2005]---------------------------Bloom syndrome is a rare autosomal recessive disorder characterized by telangiectases and photosensitivity, growth deficiency of prenatal onset, variable degrees of immunodeficiency, and increased susceptibility to neoplasms of many sites and types; The New York dermatologist David Bloom first described the syndrome in 1954; Pathophysiology: The syndrome is caused by a mutation in the gene designated BLM, traced to band 15q26-1; The protein encoded by the normal gene has DNA helicase activity and functions in the maintenance of genomic stability; Increased sister chromatid exchanges and chromosomal instability also occur, which is assumed to be responsible for the phenotype and the cancer predisposition; The frequency of parental consanguinity is much greater than in the general population; Internationally: The disease is more common in Ashkenazi Jews but has been reported in Japan and other countries ; Mortality/Morbidity: Early diagnosis of leukemia is, at present, not known to improve the chances of curative therapy; Frequent hematologic examinations in children is not advised for fear of untoward psychologic effects; Allogeneic marrow grafting has not been performed in Bloom syndrome patients; Men with Bloom syndrome are sterile; women have reduced fertility and a shortened reproductive span; Bloom syndrome patients who become pregnant are at high risk for premature delivery; Intelligence is usually normal, although mild deficiency has occurred in a few affected persons; Diabetes occurs in approximately 10% of individuals with Bloom syndrome

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