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CHARGE association

 

Definition: 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

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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