Guest guest Posted April 1, 2006 Report Posted April 1, 2006 " It kind of makes me wonder, though, for him...how can one child have so many anomalies all at once? He has CHARGE features, but there are other things that aren't common in CHARGE but are common in other syndromes, but none of them are in conjunction with each other. Does that make sense? " Perfect sense. If it helps, remember that all a syndrome is just a grouping of anomalies that occur together more frequently than chance would predict. Naming a syndrome is just a way to help medical professionals first classify the anomalies and then to help predict things that may be wrong with other body systems. Given the huge range of defects that can happen with CHARGE, it wouldn't surprise me at all if someday it is subdivided into different types (like neurofibromatosis--there is a type one and a type two). Maybe someday they will find more genes that are associated with CHARGE, and can subdivide CHARGE based on the gene mutation. Maybe the different genes will be associated with specific defects--say you have a mutation in Gene Q, then that means you will have the heart defects and ear malformations but no kidney problems or choanal atresia. Now that would be helpful! (mom to Evan, 8.5 mos) --------------------------------- New Yahoo! Messenger with Voice. Call regular phones from your PC and save big. Quote
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