What are the symptoms?
Individuals with Bloom’s syndrome are proportionally small, have 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 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 starting at an early age and also avoid sun exposure. If possible, they should seek out physicians who are familiar with Bloom’s syndrome for primary or emergency care. Additional therapies are under investigation.
What is the life expectancy for someone with Bloom’s syndrome?
The average age of death is 27; typically cancer-related.
How do I find out if I’m a carrier?
Genetic testing can identify up to 99% of Ashkenazi Jewish carriers for Bloom’s syndrome. 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 family.
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.