... The gene mutation is more frequent among Ashkenazi Jews, where the carrier rate may be greater than 1 out of 110, approximately one percent. Carriers of Bloom's Syndrome do not manifest symptoms of the disease. Individuals affected with Bloom's Syndrome have inherited two copies of the Bloom's Syndrome gene mutation. Typically they have certain features which don't look phenotypically normal. Most individuals are of an unusually small size at birth but otherwise have a normal degree of maturation. Most have a very short stature after birth, only rarely reaching five feet in height. There is a redness of the skin on the face, mainly the lower eyelids, the bridge of the nose and the adjoining upper cheek area, and the lower lip. There are increased numbers of respiratory tract and ear infections, some of which can be life threatening. The skin problem, which is aggravated by sun exposure (photosensitivity), varies in ...

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