Char syndrome
Autosomal dominant congenital disease affecting face, heart, and limbs.
Char syndrome is an autosomal dominant congenital disease caused by mutations in the TFAP2B gene. It affects the development of the bones of the face, heart, and limbs, and was first described by Florence Char in 1978.
Quick Facts
- Synonym
- Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
Facts from the source article.
Lore & Background
Char syndrome is caused by mutations in the TFAP2B gene, which regulates production of the AP-2β transcription factor active in the neural crest during embryo development. This transcription factor helps regulate genes controlling cell division and apoptosis. At least 10 mutations of this gene have been identified in people presenting Char syndrome, altering specific regions of the gene and preventing production of the transcription factor, thereby disrupting normal development of embryo structures.
Reader's Guide
Char syndrome is significant as a genetic disorder that illustrates the role of the TFAP2B gene and AP-2β transcription factor in embryonic development, particularly in neural crest-derived structures. The condition presents a distinct facial appearance including flattened cheek bones, a flat and broad nasal tip, shortened distance between nose and upper lip, triangular-shaped mouth with thick lips, and strabismus. It is also characterized by patent ductus arteriosus, a failure to close the ductus connecting the aorta and pulmonary artery before birth, which can cause breathing issues and heart failure. Abnormalities of hand and finger development, such as short or absent fifth finger, and supernumerary nipples have also been reported. The condition often affects multiple members of a family, and there are no reports of non-genetic factors related to its incidence. Its legacy lies in advancing understanding of genetic regulation of craniofacial, cardiac, and limb development.
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