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Need help with CHARGE syndrome dx. - Cia


Posted: Jul 07, 2013

Hey all, I'm doing a psych report and one of the diagnoses is CHARGE syndrome. My question is--do I spell it all out?  Or is an accepted abbreviation for the diagnoses section?

CHARGE stands for the following:  

Coloboma, Heart, Atresia of the 
choanae, Retardation of growth and development, 
Genito-urinary, Ear anomalies and hearing loss

Coloboma, Heart, Atresia of the choanae, Retardation of growth and development, Genito-urinary, Ear anomalies and hearing loss.

It seems too long to type all out?

CHARGE syndrome - Zenaida

[ In Reply To ..]
The patient need not have all the elements of CHARGE syndrome to carry the diagnosis. If you spell it all the way out, you might be including elements of the diagnosis that the patient does not actually have. The supervisors at my hospital finally decided to use the abbreviation, even in the list of diagnoses.

Thank you, that makes sense. - Much appreciated! nm

[ In Reply To ..]
/

CHARGE syndrome - pamela

[ In Reply To ..]
CHARGE syndrome is the official and recognized name. The CHARGE is an acronym, as you know, for those various conditions. HOWEVER, we (the CHARGE Syndrome Foundation) do not use those lteers to define the syndrome. It has become "outdated" because we know more medically and genetically. If an individual is identified as having CHARGE it is either based on the clinical diagnostic criteria (major and minor features) and/or the genetic diagnosis based on the presence of the CHD7 mutation. If you go to the website www.chargesyndrome.org you will find a great clinical diagnostic "grid" that is used by the docs. if you want more info, feel free to contact me or someone at the Foundation,
Pamela Ryan


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