CHARGE Syndrome By: Kylie LeHew Whitney Webb

What does CHARGE stand for? C stands for Coloboma of eye (parts of eyes don’t develop). H stands for heart Defects. A stands for Atresia of the Choanae (parts of nose don’t develop). R stands for retardation of growth/development. G stands for genital abnormalities. E stands for ear anomalies and or deafness.

What causes it? CHARGE Syndrome is when a child is born without or has a mutation of the CHD7 gene. That gene is in charge of producing protein which are thought to play a role in organization of chromatin. This gene is expressed in many fetal tissues such as the eye, inner ear, and brain cells.

Major symptoms: Heart problems (usually will end up getting open heart surgery to repair holes). Deafness Speech problems Growth problems May express Autistic symptoms. Eye vision.

Visible symptoms.

How is it diagnosed? There is no tests to find the syndrome they do it all based off of observation. The child will have all four major characteristics or three major and three minor characteristics.

Life threating or treatable? CHARGE Syndrome has no cure what so ever, but they can get help to learn everyday things. They can get physical help for their walking, heart, and ears. And mental help with school. The problem can run from very serious to very low severity. The person life span can shorten with the disability but can be longed with the right help.

Other facts. This Syndrome is very uncommon the chances of being born with it is little one in every 9- 10,000 kids are born with it. 70% mortality rate of a five year old Chargesyndrome.org Chargesyndrome.info