LEOPARD Syndrome

**Definition:** An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES.

**Tree numbers:** - C05.660.207.525 - C14.240.400.695 - C14.280.400.695 - C14.280.484.716.525 - C16.131.077.525 - C16.131.240.400.685 - C16.131.621.207.525 - C17.800.621.430.530.550.525

**Synonyms:** - Multiple Lentigines Syndrome - Lentiginosis Cardiomyopathic - Cardiomyopathic Lentiginosis - Cardio-Cutaneous Syndrome - Noonan Syndrome with Multiple Lentigines - Progressive Cardiomyopathic Lentiginosis