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Bloom syndrome
Pronunciation
Definition 1
A rare, inherited disorder marked by height that is shorter than average, a narrow face with redness and a rash, a high-pitched voice, and fertility problems. Patients with this disorder have an increased risk of cancer, especially leukemia and osteosarcoma (bone cancer). Bloom syndrome is caused by changes in a protein that normally helps cells make copies of the DNA. Changes in this protein cause many breaks, rearrangements, and other mutations in the DNA. It is a type of autosomal recessive genetic disease. Also called Bloom-Torre-Machacek syndrome. (NCI Dictionary)
Definition 2
Bloom syndrome is an autosomal recessive disorder associated with mutations in BLM gene encoding protein that belongs to the family of DNA helicases. It is characterized by predisposition to cancer, immunodeficiency, high sensitivity to UV and genomic instability of somatic cells. (Oncogene 2001 Dec 13;20(57):8276-80) (NCI Thesaurus)
Definition 3
An autosomal recessive disorder characterized by telangiectatic erythema of the face, photosensitivity, dwarfism, and other abnormalities. (NLM, Medical Subject Headings)
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