Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

J Pediatr. 1981 Aug;99(2):223-7. doi: 10.1016/s0022-3476(81)80454-4.


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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple*
  • Adult
  • Central Nervous System / abnormalities
  • Coloboma / complications*
  • Deafness / complications
  • Developmental Disabilities / complications
  • Ear / abnormalities
  • Eye Abnormalities
  • Female
  • Growth Disorders / complications
  • Heart Defects, Congenital / complications*
  • Humans
  • Male
  • Nasopharynx / abnormalities*
  • Nose / abnormalities*
  • Sexual Dysfunction, Physiological / complications