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Antley-Bixler Syndrome Phenotype MeSH Descriptor Data 2023


MeSH Heading
Antley-Bixler Syndrome Phenotype
Tree 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
Unique ID
D054882
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D054882
Scope Note
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).
Entry Term(s)
Adrenal Hyperplasia, Congenital, Due To Cytochrome P450 Oxidoreductase Deficiency
Antley-Bixler Syndrome
Antley-Bixler Syndrome Type 1
Antley-Bixler Syndrome Type 2
Antley-Bixler Syndrome with Disordered Steroidogenesis
Antley-Bixler Syndrome, Autosomal Dominant
Antley-Bixler Syndrome, Autosomal Recessive
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, With Fractures
POR Deficiency
Trapezoidocephaly-Synostosis Syndrome
Previous Indexing
Abnormalities, Multiple (1982-2008)
Craniosynostoses (1982-2008)
Syndrome (1982-2008)
Synostosis (1982-2008)
See Also
NADPH-Ferrihemoprotein Reductase
Receptor, Fibroblast Growth Factor, Type 2
Public MeSH Note
2009
History Note
2009
Date Established
2009/01/01
Date of Entry
2008/07/08
Revision Date
2021/05/10
Antley-Bixler Syndrome Phenotype Preferred
Antley-Bixler Syndrome, Autosomal Recessive Narrower
Antley-Bixler Syndrome, Autosomal Dominant Narrower
Antley-Bixler Syndrome Related
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