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Char Syndrome
7
Transcript
Char Syndrome
Symptoms:
* Flattened cheeks and nasal bridge
* tip of nose is flat and broad
* Eyes are wide set with droopy eyelids
* Patent Ductus Arteriosus - (heart defect) forms connection between the 2 major arteries (can lead to heart failure)
Hand abnormalities - shortened or absent fingers
Prevention/Treatment:
* No prevention due to gene malformation
* No treatment in the early years, but plastic surgery and physical therapy can help.
About
* Affects the development of the face, heart, and limbs
* Autosomal dominant pattern
* Caused by a loss of protein 's functions that disrupts the normal development of several parts of the body before birth
BRAINSTORM
ELEMENTS
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Causes :
Mutation of theTFAP2B gene and is inherited in an autosomal dominant fashion.
Stats:
* Very rare, only a few families with the condition are recognized worldwide
http://ghr.nlm.nih.gov/condition/char-syndrome
http://www.ncbi.nlm.nih.gov/books/NBK1106/
http://www.rightdiagnosis.com/c/char_syndrome/
http://www.madisonsfoundation.org/index.php?option=com_mpower&task=disease&diseaseID=400
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46627
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