search string

Search

by localization

 

LEOPARD Syndrome

definition

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). Not previously included in the mnemonic is cardiomyopathy which is an important feature because it is associated with significant mortality. 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. (NORD, Coppin BD J Med Genet 1997 Jul;34(7):582-586 /G. Eysenbach)

synonyms

LEOPARD Syndrome, Lentiginosis Syndrome

UMLS

Generalised lentiginosis, Generalized lentiginosis, LEOPARD syndrome, Leopard syndrome lentiginosis, Multiple lentigines syndrome

images

9 images found for this diagnose localisation: cheek, diagnosis: LEOPARD Syndrome localisation: feet, diagnosis: LEOPARD Syndrome localisation: hands, diagnosis: LEOPARD Syndrome localisation: hands, diagnosis: LEOPARD Syndrome localisation: teeth, diagnosis: LEOPARD Syndrome localisation: back of the feet, diagnosis: LEOPARD Syndrome localisation: upper back, diagnosis: LEOPARD Syndrome localisation: legs, diagnosis: LEOPARD Syndrome localisation: face, diagnosis: LEOPARD Syndrome