Definition of Char syndrome
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."
Last Editorial Review: 5/13/2016
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