CHARGE syndrome
Pronunciation: CHARJ SIN-drome
Genetic syndrome characterized by Coloboma, Heart defects, Atresia choanae, Retarded growth, Genital abnormalities, and Ear abnormalities.
Full Definition
A complex genetic syndrome caused by mutations in the CHD7 gene, characterized by a constellation of birth defects forming the acronym CHARGE: Coloboma of the eye, Heart defects, Atresia of the choanae, Retarded growth and development, Genital hypoplasia, and Ear abnormalities including hearing loss. The syndrome shows wide phenotypic variability, and diagnosis is based on clinical criteria rather than requiring all features to be present. Radiologic evaluation plays a crucial role in identifying and characterizing the various component anomalies, including cardiac imaging, temporal bone CT for inner ear malformations, and brain MRI to assess for associated CNS anomalies such as olfactory bulb hypoplasia.
Usage
Usage note: CHARGE is an acronym and should be capitalized; it's a syndrome with known genetic basis, unlike VACTERL association.
In Context
- "The combination of choanal atresia, coloboma, and characteristic ear malformations on temporal bone CT supported the diagnosis of CHARGE syndrome." — Pediatric genetics imaging workup
- "Brain MRI in this patient with CHARGE syndrome revealed absent olfactory bulbs, a characteristic finding in this condition." — Pediatric neurodevelopmental imaging