Terminal 6p deletion syndrome mimicking CHARGE syndrome: A case report

The clinical features associated with terminal 6p deletion syndrome include anterior eye chamber defects, hearing loss, congenital heart anomalies and characteristic facies along with developmental delays. These features overlap with a number of other conditions including CHARGE syndrome. This acronym stands for non-random association of anomalies including coloboma of the eye, heart anomalies, choanal atresia, retardation of growth and development, genital hypoplasia and ear anomalies/deafness now known to be caused by CHD7 mutations. We describe a boy initially diagnosed with CHARGE syndrome who was subsequently found to have a terminal 6p deletion. Screening for 6p deletions in individuals presenting with atypical CHARGE syndrome may be warranted, with direct consequences for genetic counseling.