LEOPARD syndrome

The acronym LEOPARD syndrome (MIM 151100 and others) stands for multiple lentigines,

ECG abnormalities (conduction defects), ocular hypertelorism, pulmonary stenosis, “abnormal” genitalia, retarded growth and “deafness” (sensorineural). Additionally, the condition frequently presents with hypertrophic cardiomyopathy.  There are clinical overlaps with Noonan syndrome.

Inheritance

Autosomal dominant

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Genes

The disorder is most commonly caused by mutations in PTPN11 (MIM 176876),

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