Char Syndrome (CHAR)

Char Syndrome, also known as patent ductus arteriosus with facial dysmorphism and abnormal fifth digits, is related to patent ductus arteriosus 1 and patent foramen ovale. An important gene associated with Char Syndrome is TFAP2B (Transcription Factor AP-2 Beta), and among its related pathways/superpathways are Ciliary landscape and Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors. Affiliated tissues include heart and eye, and related phenotypes are ptosis and depressed nasal bridge