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CHARGE syndrome

Radswiki and Dr Frank Gaillard et al.

The CHARGE syndrome (formally known as the CHARGE association) is an acronym that classically describes the following set of features:

C : coloboma
H : heart defects (congenital heart disease)
A : atresia (choanal)
R : retardation (mental)
G : genital hypoplasia
E : ear abnormalities / deafness

Pathology

It is thought to occur due to disturbance in embryonic differentiation ~ the 35^th to 45^th day of gestation.

Genetics

Most cases are sporadic but there are occasional autosomal dominant forms. In ~ 2/3^rds of cases is caused by a defect in the CHD7 gene on chromosome 8 ⁴.

Associations

In addition to the above 6 core features, many additional ones may be present which include

microphthalmia / anophthamia
facial clefts
intra-uterine growth retardation (IUGR)
congenital renal anomalies
in approximately 10% of cases, oesophageal atresia / tracheo-oesophageal fistula may also be present ².

Etymology

It was initially described by B D Hall and separately by H M Hittner in 1979. The term was first coined by R A Pagon to describe an association between the symptoms and subsequent work isolated a common genetic defect seen in 60% of individuals : the CHD7 defect.

Prognosis

The prognosis is variable dependent on the extent of defects. In sporadic forms the risk of recurrence is at ~ 1%.

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