Cardiospondylocarpofacial Syndrome (CSCF)

Cardiospondylocarpofacial Syndrome, also known as mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones, is related to frontometaphyseal dysplasia and synostosis. An important gene associated with Cardiospondylocarpofacial Syndrome is MAP3K7 (Mitogen-Activated Protein Kinase Kinase Kinase 7), and among its related pathways/superpathways is MAPK signaling pathway. Affiliated tissues include testis and testes, and related phenotypes are abnormal form of the vertebral bodies and high, narrow palate