Syndromic Craniosynostosis

Clin Plast Surg. 2019 Apr;46(2):141-155. doi: 10.1016/j.cps.2018.11.009.


Management strategies for syndromic craniosynostosis patients require multidisciplinary subspecialty teams to provide optimal care for complex reconstructive approaches. The most common craniosynostosis syndromes include Apert (FGFR2), Crouzon (FGFR2), Muenke (FGFR3), Pfeiffer (FGFR1 and FGFR2), and Saethre-Chotzen (TWIST). Bicoronal craniosynostosis (turribrachycephaly) is most commonly associated with syndromic craniosynostosis. Disease presentation varies from mild sutural involvement to severe pansynostoses, with a spectrum of extracraniofacial dysmorphic manifestations. Understanding the multifaceted syndromic presentations while appreciating the panoply of variable presentations is central to delivering necessary individualized care. Cranial vault remodeling aims to relieve restriction of cranial development and elevated intracranial pressure and restore normal morphology.

Keywords: Apert; Craniofacial syndromes; Craniosynostosis; Crouzon; FGFR; Muenke; Pfeiffer; Saethre-Chotzen.

Publication types

  • Review

MeSH terms

  • Child
  • Cranial Sutures / abnormalities
  • Cranial Sutures / diagnostic imaging
  • Craniosynostoses / diagnostic imaging
  • Craniosynostoses / genetics
  • Craniosynostoses / surgery*
  • Female
  • Humans
  • Imaging, Three-Dimensional
  • Infant
  • Male
  • Osteotomy / methods*
  • Osteotomy, Le Fort / methods
  • Plastic Surgery Procedures / adverse effects
  • Plastic Surgery Procedures / methods*
  • Skull / diagnostic imaging
  • Skull / surgery*
  • Syndrome
  • Tomography, X-Ray Computed