Genetics of craniofacial malformations

Semin Fetal Neonatal Med. 2021 Dec;26(6):101290. doi: 10.1016/j.siny.2021.101290. Epub 2021 Sep 17.


The field of craniofacial malformations is comprehensive and does not allow to discuss all craniofacial malformations which have been described as single entities. Many of the syndromes with craniofacial malformations are ultrarare. In this review we have chosen craniofacial malformation syndromes which are of relevance for the pediatrician, especially neonatologist: different types of craniosynostoses, oculo-auriculo-vertebral spectrum, Pierre Robin sequence and Treacher Collins syndrome. These syndromes will be described in detail. Diagnostic and therapeutic options will be discussed.

Keywords: Craniofacial malformation syndrome; Craniosynostosis; Genetic counselling; Goldenhar syndrome; Molecular testing; Oculo-auriculo-vertebral spectrum; Pierre Robin sequence; Treacher Collins syndrome.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abnormalities, Multiple*
  • Craniosynostoses* / genetics
  • Humans
  • Pierre Robin Syndrome* / diagnosis
  • Pierre Robin Syndrome* / genetics