Information on Bloom Syndrome


Information on Bloom Syndrome

Bloom syndrome is an inherited disorder characterized by a high frequency of breaks and rearrangements in an affected person’s chromosomes. People with Bloom syndrome are much smaller than average, and often have a high-pitched voice and characteristic facial features including a long, narrow face; small lower jaw; and prominent nose and ears. They tend to develop pigmentation changes and dilated blood vessels in the skin, particularly in response to sun exposure.

Affected individuals, who have inherited two copies of the Bloom’s syndrome gene mutation, typically have the following features: (a) unusually small size at birth but otherwise a normal degree of maturation; (b) shortness of stature after birth, only rarely reaching 5 feet; (c) redness of the skin of the face, mainly the bridge of the nose and the adjoining upper cheek areas, the lower eyelids, and the lower lip; and (d) increased numbers of respiratory tract and ear infections, some of which are life-threatening.

Bloom’s Syndrome is an inherited condition, which means that it is passed from parents to children. Bloom’s is caused by a gene that does not function properly. Individuals with Bloom’s Syndrome have an unusually high number of breaks along their chromosomes. (A chromosome is the structure in our body that contain DNA-genetic material.)

Bloom’s Syndrome, an inherited disorder carried by 1 in 100 Ashkenazi Jews, is characterized by photosensitivity and elevated dark red blotches on the skin, growth deficiency, reduced resistance to infectious diseases, and increased susceptibility to tumors.

People with Bloom syndrome are much smaller than average, and often have a high-pitched voice and characteristic facial features including a long, narrow face; small lower jaw; and prominent nose and ears. They tend to develop pigmentation changes and dilated blood vessels in the skin, particularly in response to sun exposure. These changes often appear as a butterfly-shaped patch of reddened skin on the face. The skin changes may also affect the hands and arms.

Bloom syndrome is characterized by growth delay that begins during pregnancy and results in short stature, red sun-sensitive skin lesions on the face, and an increased risk of cancers with earlier than expected ages of onset. People with Bloom syndrome may also have recurrent pneumonia and ear infections, diabetes, and chronic pulmonary disease. Some individuals with Bloom syndrome have learning difficulties, although intelligence is typically within the normal range.

Bloom syndrome is a rare genetic disorder characterized by short stature; increased sensitivity to light (photosensitivity); multiple small dilated blood vessels on the face (facial telangiectasia), often resembling a butterfly in shape; immune deficiency leading to increased susceptibility to infections; and, perhaps most Importantly, a markedly increased susceptibility to cancer of any organ, but especially to leukemia and lymphoma.

Bloom syndrome is an autosomal recessive inherited disorder, which means that two abnormal Bloom’s syndrome genes are needed for the disease to be apparent (one from each parent). If a person has one affected gene, he or she is called a carrier of Bloom Syndrome and does not manifest symptoms of the disease. If both parents are carriers, there is a 1 in 4 chance of having an affected child with each pregnancy.

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Information on Bloom Syndrome / Author: peterhutch