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LEOPARD Syndrome
Condition Overview: LEOPARD Syndrome is an extremely rare inherited disorder characterized by abnormalities of the skin, the structure and function of the heart, the inner ear, the head and facial (craniofacial) area, and/or the genitals. In individuals with the disorder, the range and severity of symptoms and physical characteristics may vary from case to case."LEOPARD," an acronym for the characteristic abnormalities associated with the disorder, stands for (L)entigines, multiple black or dark brown "freckle-like" spots on the skin; (E)lectrocardiographic conduction defects, abnormalities of the electrical activity--and the coordination of proper contractions--of the heart; (0)cular hypertelorism, widely-spaced eyes; (P)ulmonary stenosis, obstruction of the normal outflow of blood from the lower right chamber (ventricle) of the heart; (A)bnormalities of the genitals; (R)etarded growth resulting in short stature; and (D)eafness or hearing loss due to malfunction of the inner ear (sensorineural deafness). Some individuals with LEOPARD Syndrome may also exhibit mild mental retardation, speech difficulties, and/or, in some cases, additional physical abnormalities. In most cases, LEOPARD Syndrome appears to occur randomly for unknown reasons (sporadically). However, in other cases, the disorder is thought to be inherited as an autosomal dominant genetic trait. |
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