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).

Descriptor ID	D054882
MeSH Number(s)	C05.116.099.370.894.115 C05.660.906.181 C16.131.621.906.181 C16.320.565.925.324 C18.452.648.925.324
Concept/Terms	Antley-Bixler Syndrome Phenotype Antley-Bixler Syndrome Phenotype Antley Bixler Syndrome Phenotype Phenotype, Antley-Bixler Syndrome Syndrome Phenotype, Antley-Bixler Antley-Bixler Syndrome, Autosomal Dominant Antley-Bixler Syndrome, Autosomal Dominant Antley Bixler Syndrome, Autosomal Dominant Trapezoidocephaly-Synostosis Syndrome Syndrome, Trapezoidocephaly-Synostosis Syndromes, Trapezoidocephaly-Synostosis Trapezoidocephaly Synostosis Syndrome Trapezoidocephaly-Synostosis Syndromes Multisynostotic Osteodysgenesis With Long Bone Fractures Osteodysgenesis, Multisynostotic, With Fractures Antley-Bixler Syndrome Antley Bixler Syndrome Syndrome, Antley-Bixler Multisynostotic Osteodysgenesis Osteodysgenesis, Multisynostotic POR Deficiency POR Deficiency Antley-Bixler Syndrome with Disordered Steroidogenesis Antley Bixler Syndrome with Disordered Steroidogenesis Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 and P450c21 Deficiency Cytochrome P450 Oxidoreductase Deficiency Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency Combined Partial Deficiency of 17-Hydroxylase and 21-Hydroxylase Adrenal Hyperplasia, Congenital, Due To Cytochrome P450 Oxidoreductase Deficiency Antley-Bixler Syndrome-Like Phenotype With Disordered Steroidogenesis Antley Bixler Syndrome Like Phenotype With Disordered Steroidogenesis

Below are MeSH descriptors whose meaning is more general than "Antley-Bixler Syndrome Phenotype".

Below are MeSH descriptors whose meaning is related to "Antley-Bixler Syndrome Phenotype".

Below are MeSH descriptors whose meaning is more specific than "Antley-Bixler Syndrome Phenotype".