LEOPARD syndrome

Overview

Type of disease: Rare conditions

LEOPARD syndrome is an inherited condition characterized by abnormalities of the skin, heart, inner ears, and genitalia. The acronym LEOPARD describes the characteristic features associated with this condition: (L)entigines (multiple 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 growth resulting in short stature; and (D)eafness or hearing loss.

There are three types of LEOPARD syndrome, which are distinguished by their underlying genetic cause. LEOPARD syndrome 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. Most cases are inherited from a parent in an autosomal dominant pattern. Less often, LEOPARD syndrome occurs in people without a family history of the condition due to a new gene mutation. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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