An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2).
Also Known As:
Multisynostotic Osteodysgenesis; POR Deficiency; Antley Bixler Syndrome Phenotype; Antley Bixler Syndrome with Disordered Steroidogenesis; Antley Bixler Syndrome, Autosomal Dominant; Osteodysgenesis, Multisynostotic; Phenotype, Antley-Bixler Syndrome; Syndrome Phenotype, Antley-Bixler; Antley-Bixler Syndrome with Disordered Steroidogenesis; Antley-Bixler Syndrome, Autosomal Dominant