Craniofacial Syndromes

  • Elizabeth Anne Gruber
  • Michael Stephen Dover


A craniofacial condition involves both the cranium, with its contents, and the face. Craniosynostosis is the premature fusion of cranial sutures. The overall prevalence of craniosynostosis has been estimated at between 1 in 2100 and 1 in 2500 live births. It is most often an isolated finding, affecting the sagittal or coronal sutures, but can also occur as part of a syndrome, with additional findings such as limb abnormalities and developmental delay. It is termed ‘simple’ synostosis if a single suture is involved. All multiple suture synostoses (‘complex’ cases) are syndromic. More than a hundred syndromes associated with craniosynostosis have been described. The commoner ones are described in this chapter.


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Further Reading

  1. Elden LM, Zur KB, editors. Congenital malformations of the head and neck. New York: Springer; 2014.Google Scholar
  2. Forrest CR, Hopper RA. Craniofacial syndromes and surgery. Plast Reconstr Surg. 2013;131(1):86e–109e.CrossRefGoogle Scholar
  3. Hennekam RCM, Allanson JE, Krantz ID. Gorlin’s syndromes of the head and neck. 5th ed. Oxford: Oxford University Press; 2010.Google Scholar
  4. Patient Groups

    1. Headlines (patients’ support group)
    2. Changing Faces (support group for patients with disfigurement)

Copyright information

© Springer International Publishing AG, part of Springer Nature 2019

Authors and Affiliations

  • Elizabeth Anne Gruber
    • 1
  • Michael Stephen Dover
    • 1
    • 2
  1. 1.Oral and Maxillofacial Surgery DepartmentQueen Elizabeth HospitalBirminghamUK
  2. 2.Birmingham Children’s HospitalBirminghamUK

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