Antley-Bixler Syndrome phenotype with normal genitalia and normal steroidogenesis, and associated with autosomal dominant mutations in FGFR2, the gene for FIBROBLAST GROWTH FACTOR RECEPTOR 2.

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).

Autosomally recessive Antley-Bixler Syndrome with ambiguous genitalia and disturbed steroidogenesis, and associated with mutations in the POR gene, encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE).

Synonyms: Trapezoidocephaly-Synostosis Syndromes, Antley Bixler Syndrome, Autosomal Dominant, Adrenal Hyperplasia, Congenital, Due To Cytochrome P450 Oxidoreductase Deficiency, Osteodysgenesis, Multisynostotic, Phenotype, Antley-Bixler Syndrome, Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 and P450c21 Deficiency, Trapezoidocephaly-Synostosis Syndrome, Antley-Bixler Syndrome with Disordered Steroidogenesis, Multisynostotic Osteodysgenesis With Long Bone Fractures, Syndrome, Antley-Bixler, Trapezoidocephaly Synostosis Syndrome, Antley-Bixler Syndrome, Antley Bixler Syndrome, Antley Bixler Syndrome Like Phenotype With Disordered Steroidogenesis, Multisynostotic Osteodysgenesis, Antley Bixler Syndrome Phenotype, Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency, Antley-Bixler Syndrome, Autosomal Dominant, Cytochrome P450 Oxidoreductase Deficiency, Combined Partial Deficiency of 17-Hydroxylase and 21-Hydroxylase, Antley-Bixler Syndrome-Like Phenotype With Disordered Steroidogenesis, Syndrome, Trapezoidocephaly-Synostosis, Syndromes, Trapezoidocephaly-Synostosis, Antley Bixler Syndrome with Disordered Steroidogenesis, Osteodysgenesis, Multisynostotic, With Fractures, Syndrome Phenotype, Antley-Bixler, POR Deficiency, Antley-Bixler Syndrome Phenotype