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Bloom syndrome is an inherited genetic disease that causes
small size at birth, short stature after birth, redness of the skin, and an
increased number of respiratory tract and ear infections. Symptoms may be mild
in some people and quite severe in others.
Diabetes and problems
with fertility are more common in people with Bloom syndrome. Men are more
likely to be infertile. People with this condition have an increased risk of
all types of cancer.
There is no treatment for the cause of Bloom
syndrome. Support groups and counseling can be helpful for people with Bloom
syndrome and for their families. Genetic testing is recommended to identify
carriers of the disease and help guide decisions about having children.
Current as of:
February 20, 2015
Patrice Burgess, MD - Family Medicine & Siobhan M. Dolan, MD, MPH - Reproductive Genetics
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