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Char Syndrome


Char syndrome is a genetic disorder that is inherited as an autosomal dominant trait.

The birth defect causes unusual facial features, hand abnormalities and patent ductus arteriosis. A baby that is born with Char syndrome will likely have a longer than normal area between the nose and upper lip, flattened nasal bridge, downward slanting and wide-set eyes, thick lips, a triangular shaped mouth and an inward curved fifth finger.

It is not uncommon for a patient to experience hearing loss, vision loss and delays in development. Although there is no cure for Char syndrome, treatment includes management of patent ductus arteriosis, which could include surgery.

Genetic counseling and prenatal testing is offered at select laboratories.





Comments: Char-Syndrome

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shashank - 1670 days ago.
Here is a link to more information about the genetics of Char Syndrome that was prepared by our genetic counselor and which has links to some useful resource for those dealing with this condition: http://www.accessdna.com/condition/Char_Syndrome/676. There is also a number listed for anyone who wants to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA


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