Consistent with these findings, heterozygous mutations in MAP3K7 cause cardiospondylocarpofacial syndrome, as characterized by craniofacial and cardiac defects including dysmorphic facial bones and extensive posterior cervical vertebral synostosis (Le Goff et al., 2016; Wade et al., 2016). This evidence concerns the gene MAP3K7 and cardiospondylocarpofacial syndrome.