CHARGE syndrome
Updates to Article Attributes
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 ~35th to 45th day of gestation.
Genetics
Most cases are sporadic but there are occasional autosomal dominant forms. In ~2/3rds 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
. - olfactory bulb agenesis- arhinencephaly
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%.
-<li>in approximately 10% of cases, <a href="/articles/oesophageal-atresia">oesophageal atresia</a>/<a href="/articles/oesophageal-atresia-classification-1">tracheo-oesophageal fistula</a> may also be present <sup>2</sup>.</li>- +<li>in approximately 10% of cases, <a href="/articles/oesophageal-atresia">oesophageal atresia</a>/<a href="/articles/oesophageal-atresia-classification-1">tracheo-oesophageal fistula</a> may also be present <sup>2</sup>
- +</li>
- +<li>olfactory bulb agenesis- arhinencephaly</li>