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CHARGE association, a complex congenital condition, shows significant variability. Early, integrated, multidisciplinary care is crucial for improved diagnosis and prognosis in affected children.
Area of Science:
- Medical Genetics
- Pediatrics
- Developmental Biology
Background:
- CHARGE association is a complex group of congenital anomalies with unknown etiology.
- The condition is characterized by a wide spectrum of abnormalities affecting multiple organ systems.
- The acronym CHARGE describes key features: coloboma, heart anomaly, choanal atresia, retarded growth and development, hypoplastic genitalia, and ear malformation.
Abstract:
CHARGE association represents a group of congenital anomalies with no clear etiology. The broad array of abnormalities, which involves several systems, has been the basis for the acronym CHARGE: coloboma, heart anomaly, choanal atresia, retarded growth and development, hypoplastic genitalia and ear malformation. We present 3 children with CHARGE association to illustrate the phenotypic variability and note the multidisciplinary treatment they received. It is recommended that this entity be approached in an interdisciplinary, integrated way to allow for faster diagnosis and better prognosis.