||Unknown; See The Bloom's Syndrome Registry for more
||Estimated to be about 1 in 110 in those of Jewish ancestry
What is it?
Bloom’s syndrome is caused by changes in a gene (BLM) that is responsible for copying and repairing DNA in cells. These changes result in a high incidence of breaks in an individual’s chromosomes. The most serious manifestations of this condition are a predisposition to cancer and a compromised immune system, though there are other significant symptoms as well. Bloom’s syndrome is an autosomal recessive disorder, which means it is it not sex-linked and it must be inherited from two parents who each carry a mutation on one copy of the BLM gene.
What are the most common symptoms?
Individuals with Bloom’s syndrome are proportionally small, exhibit very little body fat in infancy and childhood, and have increased sensitivity to sunlight, which can result in blisters or redness of the skin. Intelligence is typically normal, although in some cases mild mental retardation has been reported. Males are typically infertile; females have reduced fertility and experience premature menopause. Diabetes mellitus is also common.
Is there treatment available?
At this time, there is no cure for Bloom’s syndrome, but there are recommendations for management of symptoms. Individuals with the disorder must be monitored for signs of cancer or pre-cancerous conditions, and if possible should seek out physicians who are familiar with Bloom’s syndrome for primary and emergency care.
What is the life expectancy for someone with Bloom’s syndrome?
The mean age of death is 27, typically cancer-related.
How do I find out if I am a carrier?
Genetic testing can identify up to 98% of Ashkenazi Jewish carriers for Bloom’s syndrome. Visit Screening and Counseling to learn more. The Center encourages prospective parents to meet with a genetic counselor and get tested before conception, in order to make the best health care decisions for their families.
How is Bloom’s syndrome diagnosed?
A physician knowledgeable about the symptoms of this disorder may recommend specialized chromosome testing or testing of the Bloom’s syndrome gene.
Is prenatal diagnosis available?
It is available to those with an affected child or to couples identified by DNA testing as carriers.
Where else can I learn about Bloom’s syndrome?
The Bloom’s Syndrome Registry
This registry, affiliated with Cornell University, collects data from volunteers with Bloom’s syndrome in order to better characterize and understand the disorder, in hopes of furthering research. For more information, please refer to:
James L. German III, MD
Department of Pediatrics, Weill Medical College of Cornell University
1300 York Ave.
New York, N.Y. 10065
(212) 746-3956 or (212) 866-2330
Bloom’s Syndrome Foundation
The Bloom’s Syndrome Foundation has a primary focus of funding research to develop therapy for Bloom's Syndrome and to prevent various complications, primarily the significant risk of developing cancers at early ages. The website also serves as an educational resource.
This website is an excellent resource for any number of questions that might arise about living with Bloom’s syndrome, from shopping for shoes and outfitting houses to discrimination laws and travel advice.