LEOPARD Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A genetic syndrome caused by mutations in the PTPN11 and RAF1 genes. It is characterized by the following abnormalities: multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities in genitalia, growth retardation, and deafness.

**Synonyms:** - Lentigines, Electrocardiographic Conduction Defects, Ocular Hypertelorism, Pulmonary Stenosis, Abnormalities of the Genitals, Retarded Growth, Deafness - Multiple Lentigines Syndrome - Multiple Lentigines Syndrome