Antley-Bixler syndrome

Dr Daniel J Bell et al.

Antley-Bixler syndrome (ABS) (or trapezoidocephaly-synostosis syndrome) is a rare, autosomal dominant or recessive condition characterised by craniosynostosis and extra-cranial synostoses. Mid-facial hypoplasia is also common.

Very rare condition with only 50 cases described in the global literature up to 2006 3

Mutations in two separate genes FGFR2 and POR have been found to produce the Antley-Bixler syndrome phenotype.

FGFR2 is inherited in an autosomal dominant manner and POR is in an autosomal recessive manner.

Neonatal mortality up to 80%, with usual cause of death respiratory compromise. However as the child ages, prognosis improves.

First case was described by R Antley and D Bixler in 1975 3.

Share article

Article information

rID: 60013
Section: Syndromes
Synonyms or Alternate Spellings:
  • Trapezoidocephaly-synostosis syndrome

Support Radiopaedia and see fewer ads

Updating… Please wait.

Alert accept

Error Unable to process the form. Check for errors and try again.

Alert accept Thank you for updating your details.