It is possible that the main title of the report Bloom Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- Bloom-Torre-Mackacek syndrome
- dwarfism, Levi's type
- short stature and facial telangiectasis
- short stature, telangiectatic erythema of the face
- congenital telangiectatic erythema
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.
Human Growth Foundation
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Glen Head, NY 11545
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Oak Park, IL 60302
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Bloom's Syndrome Registry
NY Blood Center
310 E. 67th St.
New York, NY 10021
Genetic and Rare Diseases (GARD) Information Center
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Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024