The 20 Best Cardiomyopathic Lentiginosis Doctors Near Me in Phoenix, AZ

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 (D)eafness There are 3 types of LEOPARD syndrome, which are distinguished by their genetic cause. Type 1 is caused by genetic changes in the PTPN11 gene; type 2 is caused by genetic changes in the RAF1 gene; and type 3 is caused by genetic changes in the BRAF gene. Other cases are caused by genetic changes 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 genetic change 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.