CHARGE syndrome
| CHARGE syndrome | |
|---|---|
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| Ear form characteristic of a person with CHARGE syndrome, along with her cochlear implant. | |
| Classification and external resources | |
| Specialty | medical genetics |
| ICD-10 | Q87.8 |
| ICD-9-CM | 759.89 |
| OMIM | 214800 |
| DiseasesDB | 32233 |
| eMedicine | ped/367 |
CHARGE syndrome (formerly known as CHARGE association), is a rare syndrome caused by a genetic disorder. First described in 1979, the acronym "CHARGE" came into use for newborn children with the congenital features of 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. About two thirds of cases are due to a CHD7 mutation. CHARGE syndrome occurs only in 0.1–1.2 per 10,000 live births; as of 2009 it was the leading cause of congenital deafblindness in the US.
Dr. B.D. Hall first described the CHARGE association in a 1979 journal paper of about 17 children who had been born with choanal atresia. During the same year, Dr. H.M. Hittner described 10 children who had choanal atresia as well as coloboma, congenital heart defect, and hearing loss. Using both coloboma or choanal atresia and some of the other related characteristic malformations, Dr. R. A. Pagon first coined the acronym CHARGE in 1981 to emphasize that this cluster of associated malformations occurred together. It came to be recognised as a syndrome within the umbrella of the CHARGE association, a set of apparently random signs occurring together. Since the signs seen in CHARGE are caused by a genetic anomaly, its name was eventually changed 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 the Netherlands, making CHARGE an official syndrome. A US study of 110 individuals with CHARGE syndrome showed that 60% of those tested had a mutation of the CHD7 gene.
In 2010, a review of 379 clinically diagnosed cases of CHARGE syndrome, in which CHD7 mutation testing was undertaken found that 67% of cases were due to a CHD7 mutation. CHD7 is a member of the chromodomain helicase DNA-binding (CHD) protein family that plays a role in transcription regulation by chromatin remodeling.
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