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Bloom's syndrome
(redirected from Bloom syndrome)

   Also found in: Medical, Acronyms, Wikipedia 0.03 sec.

Bloom's syndrome

Very rare form of human dwarfism caused by a mutation on chromosome 15. Babies with Bloom's syndrome are unusually small, with a birth weight of about 1 kg/2.2 lb, but are perfectly proportioned. They rarely grow taller than about 1.5 m/5 ft, and die in early adulthood due to a susceptibility to cancer. It is named after US dermatologist David Bloom who first described symptoms 1954.



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is a national campaign promoting genetic testing for the following diseases: Bloom Syndrome, Canavan Disease, Cystic Fibrosis, Familial Dysautonomia, Fanconi Anemia type c, Gaucher Disease, Glycogen Storage Disease Type 1A, Maple Syrup Urine Disease, Mucolipidosis IV, Type A Niemann-Pick Disease, and Tay-Sachs Disease.
Bloom syndrome is a life-threatening disorder characterized mainly by an increased risk of developing different types of cancer and dangerous infections.
 
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