Charge syndrome

From WikiMD's Wellness Encyclopedia

A rare autosomal dominant syndrome usually caused by mutations in the chd7 gene. The term charge is an acronym for the following unusual congenital abnormalities that are associated with this syndrome: coloboma of the eye, heart defects, choanal atresia, growth and developmental retardation, genital, and ear abnormalities.

Charge syndrome Resources

Contributors: Prab R. Tumpati, MD