Bloom syndrome is a condition in which children grow poorly, have frequent infections and may have learning disabilities. Bloom syndrome tends to cause infertility in males and reduced fertility in females. Affected children generally survive to adulthood, but their risk of cancer is much higher than normal throughout life, and about 10% develop diabetes.
The carrier frequency in the Ashkenazi Jewish population is approximately 1 in 100. Screening will detect more than 95% of carriers.
More information on Bloom syndrome from the Mount Sinai School of Medicine