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
It is thought to occur due to disturbance in embryonic differentiation ~ the 35th to 45th day of gestation.
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.
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.
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.
The prognosis is variable dependent on the extent of defects. In sporadic forms the risk of recurrence is at ~ 1%.
- 1. Weissleder R, Wittenberg J, Harisinghani MG. Primer of diagnostic imaging. Mosby Inc. (2003) ISBN:0323023282. Read it at Google Books - Find it at Amazon
- 2. Shaw-smith C. Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology. J. Med. Genet. 2006;43 (7): 545-54. doi:10.1136/jmg.2005.038158 - Free text at pubmed - Pubmed citation
- 3. Entezami M, Albig M, Knoll U et-al. Ultrasound Diagnosis of Fetal Anomalies. Thieme. (2003) ISBN:1588902129. Read it at Google Books - Find it at Amazon
- 4. Sanlaville D, Verloes A. CHARGE syndrome: an update. Eur. J. Hum. Genet. 2007;15 (4): 389-99. doi:10.1038/sj.ejhg.5201778 - Pubmed citation
- 5. Tellier AL, Cormier-daire V, Abadie V et-al. CHARGE syndrome: report of 47 cases and review. Am. J. Med. Genet. 1998;76 (5): 402-9. Am. J. Med. Genet. (link) - Pubmed citation
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