LEOPARD syndrome has been described by Zeisler and Becker for the first time in 1936 with multiple lentigines, hypertelorism, pectus carinatum (protruding breastbone) and prognathism (protrusion of lower jaw) .^[1] In 1962, cardiac abnormalities and short stature were first associated with the condition.^[1]

LEOPARD syndrome has been described by Zeisler and Becker for the first time in 1936 with multiple lentigines, hypertelorism, pectus carinatum, and prognathism.^[1] Other different descriptions were added through the years. In 1962, cardiac abnormalities and short stature were first associated with the condition.^[1] In 1966, three familial cases were added, a mother, her son and daughter.^[2] Another case of mother to two separate children, with different paternity of the two children, was added in 1968.^[3] In 1969, Gorlin and his colleagues created the acronym ‘LEOPARD’ that characterized multiple lentigines syndrome.^[4] It was believed as late as 2002^[5] that LEOPARD syndrome was related to neurofibromatosis type I (von Recklinghausen syndrome). In fact, since both ICD9 and ICD10 lack a specific diagnosis code for LEOPARD syndrome, the diagnosis code for NF1 is still sometimes used for diagnostic purposes, although it has been shown that the gene is not linked to the NF1 locus.^[6]