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).