CHARGE syndrome
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Related to CHARGE syndrome: VATER syndrome
CHARGE association
acronym denoting a particular grouping of congenital anomalies found together more frequently than otherwise expected. Affected patients have coloboma of the eye, heart defects (typically tetralogy of Fallot, patent ductus arteriosus, or ventricular or atrial septal defect), atresia of the choanae, renal anomalies and retardation of growth and/or development, genital anomalies in males such as small penis or cryptorchidism, and ear abnormalities or deafness.
Synonym(s): CHARGE syndrome
Farlex Partner Medical Dictionary © Farlex 2012
CHARGE syndrome
(charj) [Acronym for c(oloboma), h(eart defects), a(tresia), r(etardation), g(enital), e(ar)]A rare X-linked congenital syndrome characterized by the presence of coloboma, structural heart defects, choanal atresia, growth retardation, genital hypoplasia, and abnormal ear development with deafness.
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