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Leopard Syndrome
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.
LEOPARD is 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).
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