This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
LEOPARD syndrome is an inherited condition characterized by abnormalities of the skin, heart, inner ears, and genitalia. The acronym LEOPARD describes the features of the syndrome:
(L)entigines – dark spots on the skin
(E)lectrocardiographic conduction defects – abnormalities of the electrical activity of the heart
(O)cular hypertelorism – widely spaced eyes
(P)ulmonary stenosis – obstruction of the normal outflow of blood from the right ventricle of the heart
(A)bnormalities of the genitalia
(R)etarded (slowed) growth resulting in short stature
There are 3 types of LEOPARD syndrome, which are distinguished by their genetic cause. Type 1 is caused by mutations in the PTPN11 gene; type 2 is caused by mutations in the RAF1 gene; and type 3 is caused by mutations in the BRAF gene. Other cases are caused by mutations in the MAP2K1 gene, and in some cases the cause is unknown. LEOPARD syndrome is inherited in an autosomal dominant manner. It can be inherited from an affected parent, or it can be due to a new mutation in a person with no family history of the condition.
Leopard syndrome belongs to a group of related conditions called the RASopathies. These conditions have some overlapping features and are all caused by genetic changes that disrupt the body’s RAS pathway, affecting growth and development.
For more information, visit GARD.