MEDICAL DICTIONARY
Char syndrome: A genetic disorder characterized by patent ductus arteriosis and unusual facial features including a long philtrum (increase in the distance between the nose and upper lip), down-slanting palpebral fissures (eye slits), and thick lips as well as incurving fifth fingers.
The syndrome is inherited as an autosomal dominant trait . The gene responsible for it is in chromosome 6p12. The gene is called TFAP2B. It is a transcription factor expressed in neuroectoderm during embryonic development .
The disorder was first described in 1978 by F. Char as "peculiar facies with short philtrum, duck-bill lips, ptosis , and low-set ears."
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