Bloom Syndrome

Bloom syndrome is an inherited birth defect that occurs when there are numerous breaks along the chromosomes in an individual's body.

Although the syndrome can affect anyone, it is most common among Jews. People with Bloom's syndrome generally have a short stature and a narrow face with a prominent nose. It is common to have a butterfly-shaped rash on the face and skin color changes on the face that are usually more noticeable after being in direct sunlight.

Many individuals with this condition will have a high pitched voice and some degree of mental retardation. The disorder causes there to be an increased risk of developing infections, respiratory illness, cancer and leukemia.

The disorder also can cause fertility problems. Doctors can diagnose Bloom's syndrome prenatally through the use of CVS or amniocentesis.

Although there is no treatment for Bloom's syndrome, people that suffer from the condition should be monitored closely for any form of cancer or illness that can be associated with the syndrome.