Structured Summary
Abstract
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).
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Synonyms
32 entry terms
- Antley Bixler Syndrome Phenotype
- Phenotype, Antley-Bixler Syndrome
- 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
- Antley Bixler Syndrome
- Antley Bixler Syndrome Like Phenotype With Disordered Steroidogenesis
- 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
- Combined Partial Deficiency of 17 Hydroxylase and 21 Hydroxylase
- Osteodysgenesis, Multisynostotic
- Syndrome, Antley-Bixler
- Syndrome, Trapezoidocephaly-Synostosis
- Trapezoidocephaly Synostosis Syndrome
- Trapezoidocephaly-Synostosis Syndromes
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Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
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History Note
2009
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Previous Indexing
- Abnormalities, Multiple (1982-2008)
- Craniosynostoses (1982-2008)
- Syndrome (1982-2008)
- Synostosis (1982-2008)
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AMA Style
References
- National Library of Medicine. Antley-Bixler Syndrome Phenotype. Medical Subject Headings (MeSH). 2026. Unique ID D054882. http://id.nlm.nih.gov/mesh/2026/D054882
- Antley-Bixler Syndrome Phenotype. In: Wikipedia. https://en.wikipedia.org/wiki/Antley%E2%80%93Bixler_syndrome
- Antley-Bixler Syndrome Phenotype. In: Wikidata. https://www.wikidata.org/wiki/Q585011