Antley-Bixler Syndrome Phenotype
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).
推出的年份: 2009
树号: 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
MeSH 单一 ID: D054882
进入的组:
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
早前的内容:
Abnormalities, Multiple (1982-2008)
Craniosynostoses (1982-2008)
Syndrome (1982-2008)
Synostosis (1982-2008)
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