Moreover, mutations in genes with involvement in the cranial neural crest or craniofacial skeletal development result in malformations of the cranial bones, such as in Mowat-Wilson syndrome (ZEB2), frontonasal dysplasia 3 (ALX1), cleidocranial dysplasia (RUNX2), Endove syndrome (EN1), cousin syndrome (TBX15), and sagittal craniosynostosis (BMP2). Here, EN1 is linked to EN1-related dorsoventral syndrome.