Facts on Bloom Syndrome

Bloom syndrome is a rare genetic inherited disorder, caused by a gene that does not function properly. This creates an unusually high number of breaks or instability along their chromosomes (the structures in the cells of our body that contain our hereditary material - called DNA). This instability causes:

  • short stature
  • sensitivity to sunlight (patchy facial skin colorations)
  • immune system deficiencies (leading to frequent respiratory and bronchial infections)
  • an extraordinarily high risk to develop many cancers and leukemia, at early ages;
  • a higher incidence of diabetes;
  • infertility in men and reduced fertility in women
  • shortened life expectations (on av. 24 years).

Bloom syndrome is a very rare disorder. In The Netherlands we know about 7 affected individuals. In Germany there is a record on 10 persons and in the United States on 170. The syndrome was first described by New York dermatologist David Bloom in 1954. The syndrome has been given his name.There is no treatment for the underlying cause of Bloom syndrome. Only the treatment of the symptoms can be done. Some sorts of cancer are treatable, but affected individuals must be careful on the use of radiation as they are more sensitive to it. An early diagnose of a treatable cancer can be helpful. Bloom syndrome patients should be more attentive in their surveillance for cancer. A close contact with a physician knowledgeable about the syndrome is therefore very important.

BSF Scientific Research

For current scientific grant research you can also look at : bloomssyndrome.org