Bloom's syndrome


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Bloom's syndrome

Etymology: David Bloom, American physician, b. 1892
a rare genetic disease occurring mainly in Ashkenazi Jews. It is transmitted as an autosomal-recessive trait and is characterized by growth retardation, dilated capillaries of the face and arms, sensitivity to sunlight, and an increased risk of malignancy.

Patient discussion about Bloom's syndrome

Q. How the fetus is influenced from Bloom syndrome? If the mother has the syndrome, what is the influence on the fetus?

A. this is from:
http://www.emedicine.com/DERM/topic54.htm

More discussions about Bloom's syndrome
References in periodicals archive ?
Children are increasingly recognised as having these disorders, particularly in the setting of Fanconi anaemia, ataxia telangiectasia and Bloom's syndrome.
Washington, Dec 25 (ANI): A new research has found a molecular link which ties two rare inherited disorders - Fanconi Anemia (FA) and Bloom's Syndrome (BS).
The auction features items from Natalie Portman and her friends to raise money and awareness for The Milo Gladstein Foundation for Bloom's Syndrome.
Natalie Portman and Friend's Items Up For Bid for The Milo Gladstein Foundation for Bloom's Syndrome Include:
Cancer plays an intimate role in the lives of Bloom's syndrome patients.
Now, researchers from the New York Blood Center report that Bloom's syndrome arises from mutations in a gene, called blm, that is essential to the process by which chromosomes copy themselves.
Basically, what happens in Bloom's syndrome is happening in all of us," says lead investigator James L.
But, unlike other cancer syndromes that promote a specific type of cancer, Bloom's syndrome increases the occurrence of "the generality of cancers," says German.
Specifically, Tm Bioscience has acquired rights for gene patents associated with: Bloom's Syndrome, Canavan Disease, Familial Dysautonomia, Gaucher Disease and Niemann-Pick Disease.
Two teams of scientists have independentlyfound that an enzyme deficiency may be responsible for the rare human disease called Bloom's syndrome.
The scientists searched for a similar enzyme in cells from Bloom's syndrome patients.