LEOPARD Syndrome

LEOPARD syndrome refers to multiple congenital anomalies, especially of the heart, skin and face. It is a variant of Noonan syndrome and is also called cardiocutaneous syndrome, and is already manifested in childhood.

LEOPARD is an acronym that describes the main symptoms of the syndrome: multiple lentigines, ECG conduction disorders, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retarded growth and deafness.

The syndrome is partly autosomal dominant and partly sporadic inherited. It was found that in 85% of cases a heterozygous missense mutation was found in exon 7,12 or 13 of the PTPN11 gene. The localized locus is 12q24.1. However, only one mutation in the RAF1 gene (3p25) was recently found in 2 patients.