Char Syndrome

There are only a handful of people in the entire world with Char Syndrome. Char Syndrome happens when a person is born with mutations in the TFAP2B gene, which hinders the development of the heart, face and limbs.

A person effected with Char may exhibit some or all of the following facial features: flat midface, flat nasal bridge and broad flat nasal tip, wide-set eyes, downslanting palpebral fissures, mild ptosis, short philtrum resulting in a triangular mouth, and thickened (patulous) everted lips.

Their hands may have abnormalities including missing or shortened middle portion of the fifth finger. Some patients may also have abnormal features of the feet, but that is very rare. Abnormalities in the heart of the patien,t most often seen in newborns, it is called patent ductus. Normally after birth, the ductus arteriosus forms a link between the aorta and the pulmonary artery, but this doesn’t happen in those with Char and patient require surgery.

Here are some links to find out more:
News Medical
U.S. National Library of Medicine
My 46

Kristen Lord

Kristen Lord

Kristen is a junior and soon to be senior at Christopher Newport University. She has an Associate’s Degree in graphic design, and is working toward her Bachelors in Fine Arts focusing in graphic design. Kristen has a passion for animals and art, and in her spare time likes to paint, or design on the computer as well as playing with her dog Mr. Pickles. Kristen is happy to be moving on to a new chapter of her life soon, getting married at the end of May 2016 and graduating in April 2017.

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