General Facts

The name “CHARGE syndrome” was initially (1981) a clever acronym used to describe a cluster of symptoms noted in a number of children. The letters in CHARGE stand for: Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness. Although those specific features are no longer the major features used in making a diagnosis of CHARGE syndrome the name remains the same.

CHARGE Syndrome occurs in approximately 1 in 10,000 individuals

CHARGE Syndrome is a genetic condition and is not caused by any known exposures during pregnancy. It is typically sporadic without other family members being affected.

There can be an extremely wide variation in physical and mental abilities among individuals with CHARGE Syndrome.

CHARGE Syndrome is the leading cause of deaf-blindness.

Many infants with CHARGE syndrome face an array of life threatening illnesses and spend a significant period of time in the hospital.

Children are often underestimated because of their sensory deficits, developmental delays and communication barriers.

More than half the cases of CHARGE Syndrome have a specific genetic mutation (CHD7) along chromosome #8. While this genetic test is expensive and not yet perfected CHARGE syndrome is still often diagnosed using a clinical diagnosis.

Major Features

  • Coloboma of the eye
  • Choanal atresia or stenosis
  • Cranial nerve(s) abnormalities
  • Ear abnormalities (both internal and external)

Minor Features

  • Heart defects
  • Clift lip and/or palate
  • TE fistula
  • Kidney abnormalities
  • Genital abnormalities
  • Growth deficiency
  • Certain facial features such as a square face, broad forehead, small chin, etc
  • Palm crease

Similar Syndromes

  • 22Q deletion syndrome (aka VCFS, DiGeorge)
  • Kabuki syndrome
  • VATER/VACTERL association