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. Very few people with CHARGE will have 100% of its known features. Genetics ĬHARGE 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. 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. About two thirds of cases are due to a CHD7 mutation. These features are no longer used in making a diagnosis of CHARGE syndrome, but the name remains. 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. "Lop ear" phenotype characteristic of a person with CHARGE syndrome, along with her cochlear implant.ĬHARGE syndrome (formerly known as CHARGE association) is a rare syndrome caused by a genetic disorder.
0 kommentar(er)
