CHARGE syndrome

About 0.1 – 1.2 per 10,000 people have CHARGE syndrome. The name is an acronym of the most common symptoms:C for Colomboma, a malformation of the iris; H for Heart defect; A for Atresia of the nasal choanae (the connection between the posterior nasal passage and the throat); R for Retardation of growth and/or development; G for Genital and/or urinary abnormalities; E for Ear abnormalities and deafness. More than 80 per cent of those affected also have a heart defect, the most common being the tetralogy of Fallot, malformations of the aortic arch and ventricular and atrial septal defects.

Author(s): Dr Stefanie Weismann-Günzler
Reviewed by: Dr Heide Seidel
Last updated: 2014-03-13