Molecular Mechanisms Involved in Craniosynostosis

In Vivo. 2023 Jan-Feb;37(1):36-46. doi: 10.21873/invivo.13052.


Craniosynostosis refers to the early fusion of one or many cranial sutures, causing craniofacial abnormalities observed in 1:2,500 births worldwide. In most cases (85%), craniosynostosis is presented as sporadic anomaly (non-syndromic craniosynostosis), while in other cases (15%) as part of syndromes (syndromic craniosynostosis). Patients with syndromic disorder usually have more severe symptoms compared to those with single suture synostosis. Most common syndromes of craniosynostosis include Pfeiffer, Apert, Crouzon, Jackson-Weiss, Muenke and Boston type MSX2-related syndrome. The main gene mutations in craniosynostosis involve FGFR1, FGFR2, FGFR3, TWIST1 and MSX2, which encode key factors influencing cranial bone morphogenesis. The main therapeutic approaches are surgical as discussed in this review, and the type of therapy depends on the graveness of the incident.

Keywords: Craniosynostosis; FGFR1; FGFR2; FGFR3; MSX2; TWIST1; non-syndromic; review; syndromes.

Publication types

  • Review

MeSH terms

  • Craniosynostoses* / diagnosis
  • Craniosynostoses* / genetics
  • Humans
  • Mutation
  • Skull
  • Syndrome