CHARGE Syndrome

Synonyms

• Coloboma, Heart, Atresia of the Choanae, Retardation of Growth and
• Development, Genital and Urinary Anomalies, and Ear Anomalies
• CHARGE Association
• Choanal Atresia, Posterior

Disorder Subdivisions

• None

General Discussion

CHARGE syndrome is a rare disorder that arises during early fetal development and affects multiple organ systems. The term CHARGE comes from the first letter of some of the more common features seen in these children:

(C) = coloboma and cranial nerve abnormalities–defects of the eyeball
(H) = heart defects
(A ) = atresia of the choanae (blocked nasal breathing passages)
(R) = retardation of growth and development
(G) = genital and urinary abnormalities
(E) = ear abnormalities and hearing loss

Diagnosis is based on a different set of features (see below). In addition to the CHARGE features, most children with CHARGE syndrome have other features, including characteristic facial features, cleft lip or palate, esophageal atresia (blind-ending food pipe) or tracheoesophageal fistula (connection between the wind pipe and the food pipe). The symptoms of CHARGE syndrome vary greatly from one child to another. The exact cause of CHARGE is not known. Most cases occur randomly, for no apparent reason (sporadic). There are a few familial cases.