CHARGE Syndrome, also known as CHARGE Association, is a specific set of birth defects. The major diagnostic criteria were based on the letters in CHARGE. Not all individuals with CHARGE will have all the symptoms, and each of the symptoms can vary in their degree of severity. (Sandra L.H. Davenport, M.D.)
In 1979 Dr Bryan Hall first described the associated features of CHARGE. It became known as CHARGE Association when Dr Roberta Pagon coined the acronym in 1981.
In the early literature the acronym stood for:
The sub group of features included:
Dr Kim Blake et al in the Clinical Paediatrics Journal 1998, reclassified the major and minor characteristics of CHARGE Association.
Major Criterion:
Minor Criterion:
Despite these changes the acronym CHARGE remained.
More recently a team from The Netherlands, headed by Conny van Ravenswaay, claim to have identified the ‘CHARGE Gene’. They detected in 10 out of the 17 individuals studied mutations in the gene CHD7.
Their paper is published in ‘Nature Genetics Advance Online Publication’ published online 8 August 2004
CHARGE Syndrome (sometimes referred to as CHARGE Assocaition) can only be diagnosed by a qualified Geneticist.
The following external links contain more descriptions of CHARGE Syndrome and its features