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Bloom syndrome is an autosomal recessive disorder, caused by mutations in the maternally- and paternally-derived copies of the gene BLM. [13] As in other autosomal recessive conditions, the parents of an individual with Bloom syndrome do not necessarily exhibit any features of the syndrome.
B symptoms are so called because Ann Arbor staging of lymphomas includes both a number (I–IV) and a letter (A or B). [1] "A" indicates the absence of systemic symptoms, while "B" indicates their presence. B symptoms include: Fever greater than 38 °C.
Signs and symptoms are often non-specific, but some combinations can be suggestive of certain diagnoses, helping to narrow down what may be wrong. A particular set of characteristic signs and symptoms that may be associated with a disorder is known as a syndrome.
Symptoms typically appear at about 5 to 24 months of age. The symptoms get worse with time. Without treatment there may be poor muscle tone, trouble with coordination, trouble talking, and seizures. [2] [3] In addition, signs of psychomotor retardation, sleep disturbances, cerebellar ataxia, and delayed
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Signs and symptoms of this progressive disease tend to become more marked as the child ages. Later, the condition causes wrinkled skin, kidney failure, loss of eyesight, and atherosclerosis and other cardiovascular problems. [12] Scleroderma, a hardening and tightening of the skin on trunk and extremities of the body, is prevalent.
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Clotting disorder — Bloom's autopsy revealed he had factor V Leiden, his widow noted, a hereditary gene mutation that can increase a person's chance of developing abnormal blood clots. The ...