CHARGE syndrome. Part I. External ear anomalies

Int J Pediatr Otorhinolaryngol. 1986 Dec;12(2):137-43. doi: 10.1016/s0165-5876(86)80071-4.


Ear anomalies and hearing loss are major components of CHARGE Syndrome. This paper describes the external ear anomalies found in this syndrome: short wide pinnae, often cupped and asymmetrical; distinctive triangular concha; discontinuity between the antihelix and antitragus; and 'snipped-off' portions of the helical folds. The patterns of anomalies are so distinctive that a preliminary diagnosis of CHARGE Syndrome can often be made on the basis of ear shape alone. Part II of this communication describes hearing loss in this syndrome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple*
  • Child
  • Coloboma / complications
  • Ear, External / abnormalities*
  • Genitalia / abnormalities
  • Growth Disorders / complications
  • Hearing Disorders / complications
  • Heart Defects, Congenital / complications
  • Humans
  • Intellectual Disability / complications
  • Syndrome