LEOPARD syndrome
LEOPARD syndrome (pronounced: /ˈlɛpərd/), also known as Multiple lentigines syndrome, is a rare genetic disorder characterized by multiple abnormalities affecting various systems of the body. The term "LEOPARD" is an acronym for the major features of this disorder: Lentigines, Electrocardiographic conduction defects, Ocular hypertelorism, Pulmonic stenosis, Abnormalities of genitalia, Retardation of growth, and Deafness.
Etymology
The term "LEOPARD" is derived from the initial letters of the major features associated with the syndrome. It was first described in the medical literature by Zeisler and Becker in 1969.
Symptoms and Signs
The symptoms of LEOPARD syndrome vary greatly among affected individuals. The most common features include lentigines, which are dark spots on the skin; electrocardiographic conduction defects, which can lead to heart problems; ocular hypertelorism, or widely spaced eyes; Pulmonic stenosis, a narrowing of the pulmonary valve in the heart; abnormalities of the genitalia; growth retardation; and deafness.
Causes
LEOPARD syndrome is caused by mutations in the PTPN11, RAF1, and BRAF genes. These genes are involved in the regulation of cell growth and division.
Diagnosis
Diagnosis of LEOPARD syndrome is based on clinical features and can be confirmed by genetic testing.
Treatment
Treatment for LEOPARD syndrome is symptomatic and supportive, focusing on managing the specific symptoms and complications in each individual.
See Also
External links
- Medical encyclopedia article on LEOPARD syndrome
- Wikipedia's article - LEOPARD syndrome
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