CHARGE syndrome

CHARGE syndrome, first described in 1979 and formerly known as CHARGE association, is a rare genetic disorder recognized in newborns by a cluster of congenital features: coloboma of the eye, heart defects, atresia of the nasal passages, restricted growth or development, genital or urinary abnormalities, and ear abnormalities that commonly cause deafness. The acronym these features spell out gave the syndrome its name, though the features themselves are no longer required for diagnosis. About two-thirds of cases are caused by a mutation in the CHD7 gene on chromosome 8. The syndrome occurs in roughly one in ten thousand to one in eight thousand births depending on the population, and as of 2009 it was identified as the leading cause of combined deafness and blindness present from birth in the United States.