Definition: 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).
Other names Syndrome Phenotype, Antley-Bixler; Phenotype, Antley-Bixler Syndrome; Osteodysgenesis, Multisynostotic; Antley Bixler Syndrome, Autosomal Dominant; Antley Bixler Syndrome with Disordered Steroidogen; Antley Bixler Syndrome Phenotype; POR Deficiency; Multisynostotic Osteodysgenesis; Antley-Bixler Syndrome with Disordered Steroidogen; Antley-Bixler Syndrome, Autosomal Dominant
