Multiple lentigines syndrome is also known as LEOPARD syndrome, a genetic syndrome transmitted in an autosomal dominant manner that is named for its characteristic features: L -- lentigines (dark freckles) on the head and neck E -- electrocardiogram (EKG) abnormalities O -- ocular hyperteleorism (wide-spacing of the eyes) P -- pulmonary stenosis A -- abnormal genitalia R -- retardation of growth D -- deafness (sensorineural type) The LEOPARD syndrome is caused by mutations in the gene for protein-tyrosine phosphatase, nonreceptor-type, 11 (PTPN11). The LEOPARD syndrome is therefore allelic with Noonan syndrome which is also the result of mutations in PTPN11. LEOPARD syndrome is the most common name for the disorder. It is also known as multiple lentigines syndrome, Gorlin syndrome II, cardio-cutaneous syndrome, lentiginosis profusa syndrome, progressive cardiomyopathic lentiginosis.
Multiple lentigines syndrom (AKA LEOPARD Syndrome) Is a condition that affects many areas of the body. The characteristic features associated with the condition include brown skin spots called lentigines that are similar to freckles, abnormalities in the electrical signals that control the heartbeat, widely spaced eyes (ocular hypertelorism), a narrowing of the artery from the heart to the lungs (pulmonary stenosis), abnormalities of the genitalia, short stature, and hearing loss.
