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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
a syndrome of associated defects, including coloboma of the eye, heart anomaly, choanal atresia, retardation, and genital and ear anomalies.