Friday 2 December 2011

What is CHARGE syndrome?

CHARGE is a syndrome, genetic in origin, characterised by a group of symptoms and conditions. The name was adopted in 1981. The acronym CHARGE stands for a combination of medical conditions as listed below:

COLOBOMA of the eye. A coloboma is a structural defect of the eye, especially in the choroid and retina. Coloboma can be only in the iris (the keyhole iris) but in CHARGE it often affects the back of the eye, the retina and choroid. This means that a significant degree of the child’s visual field is affected. The child may for instance have poor or absent upper field vision.
HEART defects.
ATRESIA of the choanae. This is a congenital disorder, in which the back of the nasal passage or choana is blocked by abnormal bony or soft tissue formed during development.
RETARDATION of growth and/or development
GENITAL and /or urinary abnormalities
EAR abnormalities and deafness.

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