CHARGE Syndrome is a complex genetic condition seen in about 1 in 10,000 births. A diagnosis of CHARGE is made using major and minor clinical features or by finding a mutation in the CHD7 gene. It is sporadic with no other affected family members
C - Coloboma of the eye
H - Heart defects
A - Atresia of the choanae
R - Retardation of growth and/or development
G - Genital and/or uriniary abnormalities
E - Ear abnormalities and deafness
CHARGE is medically and developmentally one of the most complex conditions known – children with CHARGE are also likely to be amongst the most truly ‘multi sensory’ impaired people you’ll ever meet.
There’s no other identified sub-group with a population of people with multi-sensory impairment who have so many medical problems of such complexity and severity, and with so many hidden difficulties yet they rise above this.
Please visit chargesyndome.org for more information and to find out about ordering the CHARGE Syndrome Medical Manual