CHARGE syndrome
Pronunciation: CHARJ SIN-drohm
Also written as: CHARGE — Coloboma, Heart defects, Atresia choanae, Retarded growth, Genital abnormalities, Ear abnormalities
Genetic disorder characterized by coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear abnormalities.
Full Definition
CHARGE syndrome is a complex genetic disorder caused by mutations in the CHD7 gene, presenting with a constellation of birth defects. The acronym represents the major features: Coloboma of the eye, Heart defects, Atresia of the choanae, Retarded growth and development, Genital hypoplasia, and Ear abnormalities including deafness. Diagnosis requires major and minor criteria, and affected children often need multidisciplinary care involving multiple subspecialties. The condition has significant implications for feeding, breathing, hearing, and development.
Usage
Usage note: Write as 'CHARGE syndrome' not 'Charge syndrome' - the acronym is always capitalized.
In Context
- "The combination of choanal atresia, coloboma, and congenital heart disease suggested CHARGE syndrome." — Genetics consultation report
- "Children with CHARGE syndrome require early hearing assessment and intervention." — Multidisciplinary care plan