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.
Also Known As:
Syndrome, LEOPARD; Cardio-Cutaneous Syndrome; Cardiomyopathic Lentiginosis; LEOPARD Syndrome, 1; Lentiginosis Cardiomyopathic; Leopard Syndrome 1; Multiple Lentigines Syndrome; Noonan Syndrome with Multiple Lentigines; Progressive Cardiomyopathic Lentiginosis; Cardio Cutaneous Syndrome; Cardio-Cutaneous Syndromes; Cardiomyopathic Lentiginoses; Cardiomyopathic Lentiginoses, Progressive; Cardiomyopathic Lentiginosis, Progressive; Cardiomyopathic, Lentiginosis; Cardiomyopathics, Lentiginosis; LEOPARD Syndromes; Lentigines Syndrome, Multiple; Lentigines Syndromes, Multiple; Lentiginoses, Cardiomyopathic; Lentiginoses, Progressive Cardiomyopathic; Lentiginosis Cardiomyopathics; Lentiginosis, Cardiomyopathic; Lentiginosis, Progressive Cardiomyopathic; Multiple Lentigines Syndromes; Progressive Cardiomyopathic Lentiginoses; Syndrome, Cardio-Cutaneous; Syndrome, Multiple Lentigines; Syndromes, Cardio-Cutaneous; Syndromes, LEOPARD; Syndromes, Multiple Lentigines