Leopard syndrome

From WikiMD's Wellness Encyclopedia

A genetic syndrome caused by mutations in the ptpn11 and raf1 genes. It is characterized by the following abnormalities: multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities in genitalia, growth retardation, and deafness.

Leopard syndrome Resources

Contributors: Dr.T