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Lowe Syndrome
Condition Overview: Lowe Syndrome, also known as oculo-cerebro-renal syndrome, is a rare inherited metabolic disease that affects males. This disorder is characterized by lack of muscle tone (hypotonia), multiple abnormalities of the eyes and bones, the presence at birth of clouding of the lenses of the eyes (cataracts), mental retardation, short stature, and kidney problems. Other findings may include protrusion of the eyeball from the eye socket (enophthalmos); failure to gain weight and grow at the expected rate; weak or absent deep tendon reflexes; and multiple kidney problems (e.g., renal tubular dysfunction, renal hyperaminoaciduria, etc.). Lowe Syndrome is inherited as an X-linked genetic trait and symptoms develop due to lack of the enzyme phosphatidylinositol 4,5-biphosphate 5 phosphatase. |
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