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DeCS
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Descriptor English:
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Antley-Bixler Syndrome Phenotype
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Descriptor Spanish:
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Fenotipo del Síndrome de Antley-Bixler
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Descriptor Portuguese:
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Fenótipo de Síndrome de Antley-Bixler
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Synonyms English:
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Antley-Bixler Syndrome with Disordered Steroidogenesis
Antley-Bixler Syndrome, Autosomal Dominant
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Tree Number:
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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
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Definition English:
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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). |
History Note English:
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2009
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Allowable Qualifiers English:
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Record Number:
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53063
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Unique Identifier:
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D054882
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Occurrence in VHL:
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Similar:
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DeCS CID-10 SciELO LILACS LIS
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