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


It is a very rare condition with only 50 cases described in the global literature up to 2006 .

Clinical presentation



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.

Treatment and prognosis

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

History and etymology

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

Siehe auch: