LEOPARD syndrome
Multiple-lentigines syndrome
LEOPARD is an acronym for: multiple Lentigines, Electrocardiographic-conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, and sensorineural Deafness).
LEOPARD syndrome is an autosomal dominant condition characterized by lentigines and cafe au lait spots, facial anomalies, cardiac defects that shares several clinical features with Noonan syndrome (NS).
Etiology
mutation in the PTPN11 gene (MIM.176876) (#12058348#)
- ML/LEOPARD syndrome and Noonan syndrome are allelic disorders.
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