Antley-Bixler Syndrome Phenotype


Adrenal Hyperplasia, Congenital, Due To Cytochrome P450 Oxidoreductase Deficiency

Antley Bixler Syndrome

Antley Bixler Syndrome Like Phenotype With Disordered Steroidogenesis

Antley Bixler Syndrome Phenotype

Antley Bixler Syndrome with Disordered Steroidogenesis

Antley Bixler Syndrome, Autosomal Dominant

Antley-Bixler Syndrome

Antley-Bixler Syndrome with Disordered Steroidogenesis

Antley-Bixler Syndrome, Autosomal Dominant

Antley-Bixler Syndrome-Like Phenotype With Disordered Steroidogenesis

Combined Partial Deficiency of 17-Hydroxylase and 21-Hydroxylase

Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 and P450c21 Deficiency

Cytochrome P450 Oxidoreductase Deficiency

Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency

Multisynostotic Osteodysgenesis

Multisynostotic Osteodysgenesis With Long Bone Fractures

Osteodysgenesis, Multisynostotic

Osteodysgenesis, Multisynostotic, With Fractures

POR Deficiency

Phenotype, Antley-Bixler Syndrome

Syndrome Phenotype, Antley-Bixler

Syndrome, Antley-Bixler

Syndrome, Trapezoidocephaly-Synostosis

Syndromes, Trapezoidocephaly-Synostosis

Trapezoidocephaly Synostosis Syndrome

Trapezoidocephaly-Synostosis Syndrome

Trapezoidocephaly-Synostosis Syndromes

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).