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.

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Article information

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

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