Facial dysostoses: Etiology, pathogenesis and management

Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):283-94. doi: 10.1002/ajmg.c.31375. Epub 2013 Oct 4.


Approximately 1% of all live births exhibit a minor or major congenital anomaly. Of these approximately one-third display craniofacial abnormalities which are a significant cause of infant mortality and dramatically affect national health care budgets. To date, more than 700 distinct craniofacial syndromes have been described and in this review, we discuss the etiology, pathogenesis and management of facial dysostoses with a particular emphasis on Treacher Collins, Nager and Miller syndromes. As we continue to develop and improve medical and surgical care for the management of individual conditions, it is essential at the same time to better characterize their etiology and pathogenesis. Here we describe recent advances in our understanding of the development of facial dysostosis with a view towards early in utero identification and intervention which could minimize the manifestation of anomalies prior to birth. The ultimate management for any craniofacial anomaly however, would be prevention and we discuss this possibility in relation to facial dysostosis.

Keywords: Miller syndrome; Nager syndrome; Treacher Collins syndrome; acrofacial dysotosis; facial dysostosis; mandibulofacial dysostosis; neural crest cells; ribosome biogenesis; spliceosome.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology
  • Abnormalities, Multiple / therapy*
  • Chromosome Deletion
  • Chromosomes, Human, Pair 11 / genetics
  • Humans
  • Limb Deformities, Congenital / genetics
  • Limb Deformities, Congenital / pathology
  • Limb Deformities, Congenital / therapy*
  • Mandibulofacial Dysostosis / genetics
  • Mandibulofacial Dysostosis / pathology
  • Mandibulofacial Dysostosis / therapy*
  • Micrognathism / genetics
  • Micrognathism / pathology
  • Micrognathism / therapy*
  • WAGR Syndrome / genetics
  • WAGR Syndrome / pathology
  • WAGR Syndrome / therapy*

Supplementary concepts

  • Acrofacial dysostosis, Nager type
  • Chromosome 11p Deletion Syndrome
  • Genee-Wiedemann syndrome