LEOPARD Syndrome
Synonyms
Cardio Cutaneous Syndrome
Cardio-Cutaneous Syndrome
Cardio-Cutaneous Syndromes
Cardiomyopathic Lentiginoses
Cardiomyopathic Lentiginoses, Progressive
Cardiomyopathic Lentiginosis
Cardiomyopathic Lentiginosis, Progressive
Cardiomyopathic, Lentiginosis
Cardiomyopathics, Lentiginosis
LEOPARD Syndrome, 1
LEOPARD Syndromes
LEOPARD Syndromes, 1
Lentigines Syndrome, Multiple
Lentigines Syndromes, Multiple
Lentiginoses, Cardiomyopathic
Lentiginoses, Progressive Cardiomyopathic
Lentiginosis Cardiomyopathic
Lentiginosis Cardiomyopathics
Lentiginosis, Cardiomyopathic
Lentiginosis, Progressive Cardiomyopathic
Leopard Syndrome 1
Leopard Syndrome 1s
Multiple Lentigines Syndrome
Multiple Lentigines Syndromes
Noonan Syndrome with Multiple Lentigines
Progressive Cardiomyopathic Lentiginoses
Progressive Cardiomyopathic Lentiginosis
Syndrome, Cardio-Cutaneous
Syndrome, LEOPARD
Syndrome, Multiple Lentigines
Syndromes, 1 LEOPARD
Syndromes, Cardio-Cutaneous
Syndromes, LEOPARD
Syndromes, Multiple Lentigines
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.