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 counselling 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.
Medical Review:Adam Husney, MD - Family Medicine & Patrice Burgess, MD, FAAFP - Family Medicine & Brian O'Brien, MD, FRCPC - Internal Medicine & Martin J. Gabica, MD - Family Medicine & Siobhan M. Dolan, MD, MPH - Reproductive Genetics