Picture of Multiple Lentigines Syndrome (Back)
LEOPARD syndrome is a rare genetic condition that is characterized by several features including:
Lentigines, dark spots that appear on the neck and head
Ocular hyperteleorism, or wide spacing between the eyes
Pulmonary stenosis, restricted blood flow from the right ventricle of the heart
Abnormalities of the genitals
Retarded growth, leading to small stature
Deafness due to inner ear malfunction (sensorineural type)
LEOPARD syndrome is inherited in an autosomal dominant manner. It is caused by a mutation in the protein-tyrosine phosphatase, non-receptor type 11 (PTPN11) gene. This is the same gene that is responsible for Noonan syndrome. Other names for LEOPARD syndrome include multiple lentigines syndrome and Noonan syndrome with multiple lentigines.
Text Reference: National Organization for Rare Disorders: "LEOPARD Syndrome"