Bloom syndrome


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Bloom syn·drome

(blōm), [MIM*210900]
congenital telangiectatic erythema, primarily in butterfly distribution, of the face and occasionally of the hands and forearms, with sun sensitivity of skin lesions and dwarfism with normal body proportions except for a narrow face and dolichocephalic skull; chromosomes are excessively unstable and there is a predisposition to malignancy; autosomal recessive inheritance, caused by mutation in the Bloom syndrome gene (BLM) on chromosome 15q.

Bloom syndrome

(blo͞om) or

Bloom's syndrome

(blo͞omz)
n.
A rare autosomal recessive condition characterized by small stature, photosensitive skin with facial telangiectasia and erythema, and a predisposition to various cancers.

Bloom syndrome

A Jewish genetic disease of early onset.
 
Clinical findings
Pre- and postnatal growth deficiency, photosensitivity, benign and malignant tumours in childhood, male sterility, scattered skin lesions (facial telangiectasias, abnormal pigmentation), death in early adulthood usually due to cancer.
 
Molecular pathology
BLM mutation results in a deficiency of Bloom helicase, leading to mitotic hyper crossover and chromosomal instability.

Bloom syn·drome

(blūm sin'drōm)
Congenital telangiectatic erythema, primarily in butterfly distribution, of the face and occasionally of the hands and forearms, with sun sensitivity of skin lesions and dwarfism with normal body proportions except for a narrow face and dolichocephalic skull; chromosomes are excessively unstable and there is a predisposition to malignancy; autosomal recessive inheritance, caused by mutation in the Bloom syndrome gene (BLM) on chromosome 15q.

Bloom,

David, U.S. dermatologist, 1892–.
Bloom syndrome - congenital telangiectatic erythema and dwarfism with normal body proportions except for a narrow face and dolichocephalic skull.
References in periodicals archive ?
In addition to CF, CD, and TSD, our laboratory currently offers DNA-based testing for Gaucher disease, Bloom syndrome, familial dysautonomia, Fanconi anemia complement group C, Niemann-Pick disease, Mucolipidosis IV, and atypical congenital adrenal hyperplasia.
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, Mucolipidosis IV, Type A Niemann-Pick Disease, and Tay-Sachs Disease.
The expanded panel tests for nine autosomal recessive diseases and consists of Bloom syndrome, Canavan disease, Cystic fibrosis, Familial dysautonomia, Fanconi anemia, Glycogen, Niemann-Pick disease type A, and Tay-Sachs disease.