CHARGE syndrome

external

• Synonyms

  • CHARGE association

• Causes

  • CHD7 gene mutation

• Effects

  • Coloboma
  • Atresia of choanae
  • Failure to thrive
  • Growth retardation
  • Congenital deafness
  • Cryptorchidism
  • Hypospadias
  • Lop ears
  • Low-set ears
  • Congenital heart disease due to genetic syndromes

• Parents

  • Disease due to genetic mutation

• Description

  • "Coloboma of the eye Heart defects Atresia of nasal choanae Retardation of growth Genito urinary abnormalities Ear abnormalities and deafness."