Blooms Syndrome

Blooms Syndrome is a genetic disorder that is very rare but occurs mostly in the heritage of Ashkenazi Jewish descendants. Blooms Syndromes scientific name is: Congenital telangiectatic erythema. Individuals with Bloom Syndrome have small stature, high pitched voices, distinct facial features, and red lesions on their cheeks that worsen with sun exposure. A lot of the individuals develop cancer at an early age, some even develop cancerous tumors before the age of ten. Individuals with Bloom Syndrome tend to have higher rates of mental disorders, diabetes, lung problems, and low immune systems. Men with Bloom Syndrome tend to be infertile and women hit menopause in early life. No patient with Bloom Syndrome has lived to see the age of 50 years old.

Although there is no cure for Bloom Syndrome there are many ways to live with it. Children need nutritional monitoring to insure that they grow to maximum size. To help with the red lesions on the face they would need to stay out of the sun or wear sunscreen when they are in the sun. They would need to avoid infections and have regular cancer screenings. If cancer develops then the patient will need special treatment because patients with Bloom Syndrome don't respond well to radiation. Bloom Syndrome is caused by the inheritance of two of the mutant genes BLM. Bloom Syndrome is a recessive trait and both parents must be carriers to pass it on to their child.