Char syndrome is an autosomal dominant congenital disease caused by mutations in TFAP2B gene which affects the development of the bones of the face as well as the heart and limbs.

[4] There are at least 10 mutations of this gene that have been identified in people presenting Char syndrome,[5][6] which alters specific regions of the gene preventing production of the transcription factor and disrupting normal development of embryo structures.

People with this condition present a very distinct facial appearance with flattened cheek bones, flat and broad tip nose, shortened distance between the nose and upper lip, triangular-shaped mouth with tick lips and strabismus.

It is also characterized by a patent ductus arteriosus, which is the failure to close the ductus that connects the aorta and pulmonary artery during pre-birth life and may cause many symptoms including breathing issues and heart failure.

[7] These conditions often affect multiple members of a family and there are no reports of non-genetic factors that might be related with incidence of this syndrome.