LEOPARD Syndrome
Multiple Lentigines Syndrome
📋Overview
LEOPARD syndrome is a rare genetic disorder now classified under the broader category of Noonan syndrome spectrum disorders. The term LEOPARD is a legacy acronym describing key features: Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retarded growth, and Deafness. It is caused by mutations in genes involved in the RAS/MAPK signaling pathway, most commonly PTPN11. The modern preferred terminology refers to it as Noonan syndrome with multiple lentigines (NSML).
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