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 ?
Hokken-Koelega, "Bloom syndrome in short children born small for gestational age: A challenging diagnosis," The Journal of Clinical Endocrinology & Metabolism, vol.
Early-onset drusen in a girl with Bloom Syndrome: Probable clinical importance of an oculer manifestation.
Among the conditions reported are Bloom syndrome, cystic fibrosis, galactosemia, Gaucher's disease, hemochromatosis, Tay-Sachs disease and beta-thalassemia.
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.