CHARGE-association

CHARGE (Coloboma, Heart defect. Atresia choanae, Retarded growth. Genital hypoplasia, Ear anomalies).

CHARGE association is a symptom complex of congenital defects of the eyeball (coloboma), heart defects, choanal atresia, hypoplasia of the external genitalia and anomalies of the auricle in children with delayed physical development.

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Epidemiology of the CHARGE association

1 in 10,000 newborns.

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Reasons for CHARGE association

The disease is heterogeneous. Both dominant and recessive types of inheritance are noted. In 75% of cases, verification of a specific mutation of the CHD7 gene (OMIM 608892) is possible.

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Symptoms of CHARGE association

Choanal atresia is diagnosed from birth, can be unilateral or bilateral - membranous or bone. Choanal atresia is the most common cause of respiratory problems in this disease.

Congenital heart defects: patent ductus arteriosus, atrioventricular canal, tetralogy of Fallot, cardiac septal defects and right-sided aortic arch with vascular ring. Congenital heart defects should be excluded in all neonates with choanal atresia.

Approximately 80% of patients have colobomas of the eyeball (iris or choroid), and retinal detachment may also be detected.

From surgical pathology: gastroesophageal reflux, congenital kidney defects (hypoplasia, duplication, cysts, hydronephrosis), vesicoureteral reflux. A high frequency of repeated fundoplications is known in surgical correction of gastroesophageal reflux in children.

Diagnostics of CHARGE association

Three or more of the above congenital defects allow diagnosing the disease. In 75% of cases, verification of a specific mutation of the CHU7 gene (OMIM 608892) is possible.

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Treatment of CHARGE association

Symptomatic treatment. Genetic counseling is indicated.

Forecast

Determined by the frequency and severity of congenital malformations.