Preferred Label : Antley-Bixler syndrome;
ICD-11 definition : Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with
midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.
Two genetically distinct forms are observed: type 1 Antley-Bixler syndrome is associated
with heterozygous mutations in the FGFR2 gene (10q26) without impairment of steroidogenesis,
whereas type 2 Antley-Bixler is associated with homozygous mutations in the POR gene
(7q11.2), encoding cytochrome P450 oxidoreductase (POR), which plays a direct role
in steroidogenesis. Type 2 Antley-Bixler can thus be accompanied by sexual ambiguity.;
Origin ID : 2027710139;
Currated CISMeF NLP mapping
Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with
midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.
Two genetically distinct forms are observed: type 1 Antley-Bixler syndrome is associated
with heterozygous mutations in the FGFR2 gene (10q26) without impairment of steroidogenesis,
whereas type 2 Antley-Bixler is associated with homozygous mutations in the POR gene
(7q11.2), encoding cytochrome P450 oxidoreductase (POR), which plays a direct role
in steroidogenesis. Type 2 Antley-Bixler can thus be accompanied by sexual ambiguity.
