A reappraisal of the CHARGE association

J Med Genet. 1988 Mar;25(3):147-56. doi: 10.1136/jmg.25.3.147.


We describe 14 boys and six girls, including monozygotic twins, with the CHARGE association. All of the children had at least four of the seven major features included in the mnemonic CHARGE and all had ear anomalies or deafness or both and either coloboma or choanal atresia or both. All the boys had evidence of hypogonadism. A characteristic facial appearance (unusually shaped ears, unilateral facial palsy, square face, malar flattening, pinched nostrils) was observed in many of our cases. The aetiology remains unknown. All our cases are sporadic.

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Choanal Atresia / genetics*
  • Coloboma / genetics*
  • Diseases in Twins*
  • Ear / abnormalities*
  • Female
  • Growth Disorders / genetics*
  • Heart Defects, Congenital / genetics*
  • Humans
  • Hypogonadism / genetics*
  • Infant
  • Male
  • Retina / abnormalities
  • Syndrome
  • Twins, Monozygotic