Bloom syndrome is a genetic condition characterized by prenatal growth delay and a butterfly rash in the mid-face region. The most serious characteristics of this condition are a predisposition to cancer and infections. Intelligence is usually not affected in this disorder, although mild mental retardation has been seen in some cases. No effective treatment is available at this time. Death from cancer usually occurs before age 30. The disease is believed to be caused by defective DNA repair and it is sometimes classified as a "segmental progeria" ("accelerated aging" disease. more...
Bloom syndrome is inherited in an autosomal recessive fashion. Both parents must be carriers in order for a child to be affected. The carrier frequency in individuals of Eastern European Ashkenazi ancestry is about 1/100. If both parents are carriers, there is a one in four, or 25%, chance with each pregnancy for an affected child. Genetic counseling and genetic testing is recommended for families who may be carriers of Bloom syndrome.
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