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CHARGE syndrome (formerly known as CHARGE association), is a syndrome caused by a genetic disorder. It was first described in 1979.
In 1981, the term “CHARGE” came into use as an acronym for the set of unusual congenital features seen in a number of newborn children.[1] The letters stand for: Coloboma of the eye, Heart defects, Atresia of the nasal choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness. These features are no longer used in making a diagnosis of CHARGE syndrome, but the name remains.
Dr. B.D. Hall first described the CHARGE association in a 1979 journal paper about 17 children who had all been born with choanal atresia.[2] About the same time, Dr. H.M. Hittner also observed that the group of 10 children in a study all had choanal atresia as well as coloboma, congenital heart defect, and hearing loss.[3] Using both a coloboma or choanal atresia and some of the other related characteristic malformations, Dr. R. A. Pagon first coined the term CHARGE.[1] In choosing this acronym, Dr. Pagon intended to emphasize that this cluster of associated malformations occurred together. It soon came to be recognised as a syndrome within the umbrella of the CHARGE association. While an association is a set of apparently random signs occurring together, the signs seen in CHARGE are caused by a genetic anomaly and so its name was officially corrected to ‘CHARGE syndrome’.
CHARGE syndrome was formerly referred to as CHARGE association, which indicates a non-random pattern of congenital anomalies that occurs together more frequently than one would expect on the basis of chance. Very few people with CHARGE will have 100% of its known features. In 2004, mutations on the CHD7 gene (located on Chromosome 8) were found in 10 of 17 patients in a study conducted in the Netherlands, making CHARGE an official “syndrome”.[4] A further study in the US of 110 individuals with CHARGE syndrome showed that 60% of those tested had a mutation on the CHD7 gene.[5]
Although genetic testing positively identifies nearly 2/3 of the total number of children with CHARGE, diagnosis is still largely clinical.[1]. The acronym CHARGE was coined in 1981 to describe a cluster of features identified in a number of children. The following are the signs that were originally identified in children with this syndrome, but these features alone are no longer used in official diagnosis.
CHARGE syndrome has an estimated prevalence of one in ten thousand.
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