LEOPARDsyndrome

LEOPARDsyndrome

An autosomal dominant condition (OMIM:151100) with variable expression, characterised by thousands of 1–5-mm darkly pigmented macules on the skin, often of the trunk and neck, but not on mucosae. The acronym LEOPARD comes from its clinical symptoms:
▪ Lentigines;
▪ EKG disturbances;
▪ Ocular hypertelorism;
▪ Pulmonary stenosis;
▪ Abnormalities of genitalia (gonadal or ovarian hypogonadism, cryptorchidism, delayed puberty);
▪ Retarded growth;
▪ Deafness (sensorineural, i.e., nerve deafness).
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