Bloom syndrome

An autosomal recessive disease, found predominantly but not exclusively in persons of Jewish ancestry, marked by chromosomal abnormalities, facial rashes, dwarfism, and a propensity to develop leukemia.


Bloom’s syndrome is a genetic disorder that predominantly affects individuals of East European Jewish ancestry. This syndrome is characterized by distinct physical features, including short stature, a butterfly-shaped red rash on the face, and photosensitivity, which refers to an abnormal reaction to sunlight. Individuals with Bloom’s syndrome also face an elevated risk of developing certain types of cancer, such as leukemia. While this disorder is more prevalent among individuals with East European Jewish descent, it can occur in other populations as well.


 


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