Engelsk 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).
Svenska synonymer
Inga svenska synonymer finns.
Engelska synonymer
Antley Bixler Syndrome Phenotype — Phenotype, Antley-Bixler Syndrome — Antley-Bixler Syndrome, Autosomal Recessive — Antley Bixler Syndrome, Autosomal Recessive — Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency — Combined Partial Deficiency of 17-Hydroxylase and 21-Hydroxylase — Combined Partial Deficiency of 17 Hydroxylase and 21 Hydroxylase — Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 and P450c21 Deficiency — Antley-Bixler Syndrome with Disordered Steroidogenesis — Antley Bixler Syndrome with Disordered Steroidogenesis — Antley-Bixler Syndrome-Like Phenotype With Disordered Steroidogenesis — Antley Bixler Syndrome Like Phenotype With Disordered Steroidogenesis — POR Deficiency — Adrenal Hyperplasia, Congenital, Due To Cytochrome P450 Oxidoreductase Deficiency — Cytochrome P450 Oxidoreductase Deficiency — Antley-Bixler Syndrome Type 1 — Antley Bixler Syndrome Type 1 — Antley-Bixler Syndrome, Autosomal Dominant — Antley Bixler Syndrome, Autosomal Dominant — Trapezoidocephaly-Synostosis Syndrome — Syndrome, Trapezoidocephaly-Synostosis — Trapezoidocephaly Synostosis Syndrome — Trapezoidocephaly-Synostosis Syndromes — Osteodysgenesis, Multisynostotic, With Fractures — Antley-Bixler Syndrome Type 2 — Antley Bixler Syndrome Type 2 — Multisynostotic Osteodysgenesis With Long Bone Fractures — Antley-Bixler Syndrome — Antley Bixler Syndrome — Syndrome, Antley-Bixler — Multisynostotic Osteodysgenesis — Osteodysgenesis, Multisynostotic