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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.
Amplified musculoskeletal pain is a syndrome which is a set of characteristic symptoms and signs. Essentially, the syndrome is characterized by diffuse, ongoing, daily pain associated with relatively high levels of incapability and greater care-seeking behavior.
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.
The diagnosis is made either by testing of the fumarate hydratase activity in cultured skin fibroblasts or lymphoblastoid cells and demonstrating reduced activity (≤60%) or by molecular genetic testing. [3] Special histologic features of fibroids may allow an early diagnosis in absence of other symptoms. [4]
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Most people's symptoms start between the ages of 20 and 40, and the disease is three times more common in women than in men, according to the National Institutes of Health and the nonprofit ...
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.