Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association.
We report 21 patients with choanal atresia or ocular coloboma or both who have certain other associated anomalies, including congenital heart disease, postnatal growth deficiency, mental retardation and/or CNS anomalies, microphallus and cryptorchidism, and ear anomalies and/or deafness. Facial palsy, micrognathia, cleft palate, and swallowing difficulties were also common. It has not been possible to define a single etiology or a syndrome in these patients. We propose the mnemonic CHARGE (C-coloboma, H-heart disease, A-atresia choanae, R-retarded growth and retarded development and/or CNS anomalies, G-genital hypoplasia, and E-ear anomalies and/or deafness) to describe the features of this association.
D000015:Abnormalities, Multiple; D000328:Adult; D002490:Central Nervous System / Q000002:abnormalities; D003103:Coloboma / Q000150:complications*; D003638:Deafness / Q000150:complications; D002658:Developmental Disabilities / Q000150:complications; D004423:Ear / Q000002:abnormalities; D005124:Eye Abnormalities; D005260:Female; D006130:Growth Disorders / Q000150:complications; D006330:Heart Defects, Congenital / Q000150:complications*; D006801:Humans; D008297:Male; D009305:Nasopharynx / Q000002:abnormalities*; D009666:Nose / Q000002:abnormalities*; D012735:Sexual Dysfunction, Physiological / Q000150:complications