Bloom syndrome is a rare genetic condition that can affect people of all races and nationalities. The most consistent feature of Bloom syndrome is small size, which includes height, weight, and head size in most circumstances. Skin findings also occur commonly and include a rash on the cheeks, nose, and other sun-exposed areas. Intelligence and school performance are most often normal, though some children may benefit from academic support.
Most people with Bloom syndrome are healthy and do not require subspecialty medical care, but there are some medical concerns that may benefit from regular monitorin. Chief among these is an increased risk for cancer, which occurs more commonly and at earlier ages among people with Bloom Syndrome than in the general population. Due to the presence of these complications, people with Bloom syndrome benefit from a plan to screen, detect and treat problems at an early stage.
A free, concise description of Bloom syndrome in non-medical, non-scientific terms is also available. Contact the Bloom Syndrome Registry for more information.
The Bloom Syndrome Registry at Weill Cornell Medicine is a cooperative clinical and investigational effort involving medical professionals with experience caring for people with Bloom syndrome and addressing the needs of the Bloom syndrome community.
Because any single physician or even large medical center is unlikely to encounter more than a small number of people with Bloom syndrome, the Bloom Syndrome Registry was created to systematically gather information to increase understanding, conduct research and to serve as a resource for patients and their care providers.
If you would like to learn more about Bloom syndrome or to provide information to the Registry, please contact us at (646) 962-2205. The Registry maintains this information in a confidential database, and it is approved by the Institutional Review Board of Weill Cornell Medical College.