This report describes general characteristics of the group of diseases described as cardiofaciocutaneous syndrome (CFC syndrome, CFCS). CFC syndrome is a genetically heterogeneous disorder, with multiple implicated genes. Subtypes of this disease are RASopathies, caused be genes that encode components of the Ras/Raf/MAPK pathway. A list of CFCS subtypes, as defined by OMIM, can be found by following the link in the "OMIM phenotypic series" section, below. A subset of these are listed in the table below, with links to more detailed reports for subtypes that have been investigated using fly models.
Several disease-implicated variants associated with cardiofaciocutaneous syndrome have been investigated in Drosophila using the fly gene Dsor1. Dsor1 is the sole high-scoring fly ortholog of both MAP2K1 and MAP2K2 and both of these human genes are implicated in cardiofaciocutaneous syndrome. In some cases a characterized Dsor1 mutation is analogous to disease-implicated variants in both genes. For example, Y149C in the fly Dsor1 gene corresponds to Y130C in the human MAP2K1 gene, which is implicated in CFC3, and Y134C in the human MAP2K2 gene, which is implicated in CFC4.
[updated Apr. 2023 by FlyBase; FBrf0222196]
Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), facial features (facio-), and the skin and hair (cutaneous). People with this condition also have delayed development and intellectual disability, usually ranging from moderate to severe. Infants with cardiofaciocutaneous syndrome typically have weak muscle tone (hypotonia), feeding difficulties, and a failure to grow and gain weight at the normal rate (failure to thrive). The symptoms of cardiofaciocutaneous syndrome overlap significantly with those of two other genetic conditions, Costello syndrome and Noonan syndrome. [MedlinePlus, Cardiofaciocutaneous syndrome; 2023.04.07]
Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006; pubmed:16474404). [from MIM:115150; 2023.04.07]
Most cases occur sporadically, but autosomal dominant transmission has been reported. [from MIM:115150; 2023.04.07]
