Ett syndrom som kännetecknas av lentigo, ekg-avvikelser, hypertelorism, pulmonalstenos, onormalt utvecklade könsorgan, hämmad växt och dövhet. Det beror på mutationer i PTPN11-genen, som kodar för protein-tyrosinfosfatas typ 11, ett icke-receptorprotein. De kliniska dragen delas med Noonans syndrom, som också beror på mutationer i PTPN11, och med neurofibromatos 1. Syndromet har även kopplats till mutationer i NF1-genen.
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.
Kardiokutant syndrom — Noonans syndrom med multipla lentigines
LEOPARD Syndromes — Syndrome, LEOPARD — Syndromes, LEOPARD — Lentiginosis Cardiomyopathic — Cardiomyopathic, Lentiginosis — Cardiomyopathics, Lentiginosis — Lentiginosis Cardiomyopathics — Progressive Cardiomyopathic Lentiginosis — Cardiomyopathic Lentiginoses, Progressive — Cardiomyopathic Lentiginosis, Progressive — Lentiginoses, Progressive Cardiomyopathic — Lentiginosis, Progressive Cardiomyopathic — Progressive Cardiomyopathic Lentiginoses — Cardio-Cutaneous Syndrome — Cardio Cutaneous Syndrome — Cardio-Cutaneous Syndromes — Syndrome, Cardio-Cutaneous — Syndromes, Cardio-Cutaneous — Noonan Syndrome with Multiple Lentigines — Multiple Lentigines Syndrome — Lentigines Syndrome, Multiple — Lentigines Syndromes, Multiple — Multiple Lentigines Syndromes — Syndrome, Multiple Lentigines — Syndromes, Multiple Lentigines — Cardiomyopathic Lentiginosis — Cardiomyopathic Lentiginoses — Lentiginoses, Cardiomyopathic — Lentiginosis, Cardiomyopathic — LEOPARD Syndrome, 1 — Leopard Syndrome 1