Auralcephalosyndactyly: a new hereditary craniosynostosis syndrome

J Med Genet. 1988 Jul;25(7):491-3. doi: 10.1136/jmg.25.7.491.


A family is described in which craniosynostosis is associated with characteristic pinnae, a short columella, and symmetrical syndactyly of the fourth and fifth toes, inherited as an autosomal dominant condition. Various dominantly inherited syndromes involving craniosynostosis have been identified, but the constellation of findings in this family suggests a new syndrome different from those previously described.

Publication types

  • Case Reports

MeSH terms

  • Craniosynostoses / genetics*
  • Ear, External / abnormalities*
  • Facial Bones / abnormalities*
  • Female
  • Humans
  • Infant, Newborn
  • Pedigree
  • Skull / abnormalities*
  • Syndactyly / genetics*
  • Syndrome