Bloom syndrome is a condition characterised by poor growth, increased skin sensitivity to sunlight, frequent infections and a predisposition to certain cancers.
If you have just received a diagnosis there is help and support available - see ‘further information and support’ below for links to valuable resources. Also, please note that not every affected person will experience all the symptoms outlined – to better understand your/your family members’ individual case, we recommend you talk to your doctor or healthcare specialist.
Bloom Syndrome is an autosomal recessiveRecessive disorders require both parents to carry a specific disorder-related mutation and pass it on to their child for the disorder to be inherited condition.
Common signs and symptoms of Bloom syndrome include:
Please click on the titles to open and close the following information sections.
There is currently no cure for Bloom syndrome, but there are recommendations for managing the symptoms, e.g. people affected by the syndrome would benefit from monitoring for the signs of cancer or pre-cancerous conditions, and decreasing their exposure to sunlight and x-rays.
People with Bloom syndrome have a shortened life-span, typically as a consequence of a cancer-related illness.
The syndrome can be diagnosed clinically by a doctor familiar with the symptoms. The diagnosis can be confirmed or ruled out using genetic testing as the gene for Bloom syndrome has been identified.
For more details about testing, please refer to the testing section.
There is currently no UK-based patient group dedicated to BS, however, the international resources below provide further information and support for the condition.
The BSA’s mission is to promote communication and foster advocacy among its members; to raise funds for Bloom’s syndrome research, projects, programs, and events; and to publicize the syndrome’s importance to human health, especially to worldwide cancer research.
An American-based website designed to connect people living with BS and answer questions that might arise about living with the condition.
An international support group on Facebook for people with Bloom syndrome.
Affiliated with Cornell University, the registry collects data from international volunteers with BS in order to better characterize and understand the disorder. The site provides information about BS and contact details for anyone interested in participating or learning more.
To find out more about general resources relevant to Jewish genetic disorders, visit our resources and support section.
Written by Jnetics.
Approved by Professor Finbarr Cotter, Professor of Haematology at the Centre for Haemato-Oncology at Barts Cancer Institute, Queen Mary, University of London.
Last review: 24.11.2014