NORD gratefully acknowledges M.Cristina Digilio, MD, Medical Genetics, Bambino Gesu Hospital, Rome, Italy, for assistance in the preparation of this report.
LEOPARD syndrome is a rare genetic 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 is an acronym for the characteristic abnormalities associated with the disorder: L stands for (L)entigines (multiple black or dark brown 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 right 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 intellectual disability, speech difficulties, and/or, in some cases, additional physical abnormalities. LEOPARD syndrome is an autosomal dominant genetic disorder.
LEOPARD syndrome and Noonan syndrome are both caused by mutations in the PTPN11 and RAF1 genes.
(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., short stature, cardiac abnormalities, hearing loss, etc.].)
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