Scaphocephaly, maxillary retrusion, and impaired intellectual development is an autosomal dominant craniosynostosis syndrome characterised by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. It has been reported that mutations in FGFR2 cause this syndrome. FGFR2 encodes fibroblast growth factor receptor type 2, and plays an essential role in the regulation of cell proliferation, differentiation, migration and apoptosis, and in the regulation of embryonic development.
