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Crucial
It is feasible that the main title of the record LEOPARD Disorder is not the name you anticipated.
Condition Communities
- None
General Discussion
Recap
LEOPARD disorder is an uncommon congenital disease characterized by abnormalities of the skin, the framework and function of the heart, the inner ear, the head and facial (craniofacial) area, and/or the genital areas. In people with the problem, the range and also intensity of signs and also physical qualities may vary from situation to situation.
LEOPARD is an acronym for the characteristic abnormalities associated with the disorder: L represents (L)entigines (a number of black or dark brown places on the skin); (E)lectrocardiographic transmission defects (irregularities of the electrical activity and also the coordination of appropriate contractions of the heart); (0)cular hypertelorism (widely-spaced eyes); (P)ulmonary constriction (obstruction of the healthy outflow of blood from the right ventricle of the heart); (A)bnormalities of the genital areas; (R)etarded development causing short stature; as well as (D)eafness or hearing loss because of breakdown of the inner ear (sensorineural hearing problems). Some people with LEOPARD syndrome may additionally exhibit light intellectual handicap, speech troubles, and/or, in many cases, additional physical irregularities. LEOPARD syndrome is an autosomal leading genetic disorder.
Introduction
LEOPARD syndrome as well as Noonan syndrome are both caused by mutations in the PTPN11 as well as RAF1 genes.
