Definition of CHARGE association

Reviewed on 3/29/2021

CHARGE association: A constellation of congenital malformations (birth defects). The name of the condition is an acronym of some of the most frequent features:

  • C = Coloboma (cleft) of the eye (80% of cases) and Cranial nerve abnormalities,
  • H = Heart malformation,
  • A = Choanal Atresia (blockage of the nasal passageways) (58% of cases),
  • R = Retardation of growth after birth (87% of cases) and Retardation of development (94% of cases),
  • G = Genital hypoplasia (underdevelopment) in males (75% of cases) and urinary tract malformations, and
  • E = Ear malformations and/or deafness (88% of cases).
In addition, there may be cleft lip or palate; micrognathia (small chin); facial palsy; and esophageal atresia (a blind-ending to the food tube) or tracheoesophageal fistula (a connection between the wind pipe and the food tube). Other problems reported in children with the CHARGE association include microcephaly (abnormally small head), ptosis (drooping) of the eyelids, trouble breathing (due to the choanal atresia), feeding problems in infancy, omphalocele, anal stenosis (narrowing) or atresia (blockage), and deficiency of growth hormone.

Children with the CHARGE association may die in the newborn period or later in childhood or, as is often the case, they may survive. Causes of death in infancy include a heart defect and respiratory insufficiency. Babies prefer to breath through the nose (which is blocked by choanal atresia).

Children with the CHARGE association who survive usually show some degree of mental deficiency. The range of the mental handicap is very broad. The mental retardation may be very mild or it may be moderate, severe or even profound. The presence of visual handicaps (from the colobomas and other eye malformations) or deafness can further compromise cognition and make for more challenges in education.

Most children with the CHARGE association have no family history of the disorder. About 8% of cases are familial. The normal parents of a child with the CHARGE association have a low but not negligible risk of recurrence of the CHARGE association in a future pregnancy.

The major birth defects characteristic of the CHARGE association arise between days 35 and 45 days after conception. However, the cause or causes of the CHARGE association are purely conjectural -- entirely guesswork -- at this time.

The association of choanal atresia with other congenital malformations was summarized by Brian Hall in 1979 and in 1981 Roberta Pagon and colleagues broadly delineated the disorder and coined the acronym CHARGE association. It is also sometimes called the CHARGE syndrome.

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