National Organization for Rare Disorders, Inc.
It is possible that the main title of the report LEOPARD Syndrome is not the name you expected.
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.
Human Growth Foundation
997 Glen Cove Avenue
Glen Head, NY 11545
6645 W. North Avenue
Oak Park, IL 60302
American Heart Association
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Dallas, TX 75231
Restricted Growth Association
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Yeovil, BA20 9FF
NIH/National Heart, Lung and Blood Institute
P.O. Box 30105
Bethesda, MD 20892-0105
Genetic and Rare Diseases (GARD) Information Center
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Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
American Academy of Audiology
11730 Plaza America Drive, Suite 300
Reston, VA 20190
RASopathies Network USA
244 Taos Road
Altadena, CA 91001-3953
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Last Updated: 7/23/2012
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