Diverse clinical and genetic aspects of craniofrontonasal syndrome

Pediatr Neurol. 2011 Feb;44(2):83-7. doi: 10.1016/j.pediatrneurol.2010.10.012.


Craniofrontonasal syndrome is characterized by coronal craniosynostosis, hypertelorism, telecanthus, a broad grooved nasal tip, dental anomalies, mild syndactyly, and broad thumbs. It involves an X-linked malformation syndrome with a variable phenotype that is caused by mutations in the ephrin-B1 gene. Detailed phenotypic analysis indicates that females are more severely affected than males, a highly unusual characteristic for an X-linked disorder. We review the literature on this genetic paradox, and discuss the pattern of inheritance and genetic counseling.

Publication types

  • Review

MeSH terms

  • Animals
  • Craniofacial Abnormalities / diagnosis*
  • Craniofacial Abnormalities / genetics*
  • Female
  • Genotype
  • Humans
  • Male
  • Mutation / genetics*
  • Phenotype*

Supplementary concepts

  • Craniofrontonasal dysplasia