Bloom syndrome (BS) is a rare disorder characterized by severe prenatal and postnatal growth retardation, sun-sensitive facial erythema and predisposition to multiple cancers. The development of cancer is the most frequent complication and involves cancers of the skin, leukocytes, lymphoid tissues, connective tissues, germ cells, nervous system and kidneys. Other common findings in individuals with BS include learning disabilities, recurrent infections, chronic pulmonary disease and diabetes mellitus. Infertility is common in male patients. While most female patients do not experience infertility, they have been found to enter menopause prematurely. Affected individuals of different ethnic groups share a similar phenotype. Although BS is rare, it is more common in the Ashkenazi Jewish population due to a founder effect. Bloom syndrome is often in the differential diagnosis when there is unexplained severe intrauterine and postnatal growth retardation or the presentation of cancer in a very young individual.