Antley-Bixler Syndrome Phenotype

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Is a:
  • Disease or Syndrome
Definition:
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). Autosomally recessive Antley-Bixler Syndrome with ambiguous genitalia and disturbed steroidogenesis, and associated with mutations in the por gene, encoding p450 (cytochrome) oxidoreductase (nadph-ferrihemoprotein reductase). Antley-Bixler Syndrome phenotype with normal genitalia and normal steroidogenesis, and associated with autosomal dominant mutations in fgfr2, the gene for fibroblast growth factor receptor 2.
Synonyms:
  • Antley Bixler Syndrome Phenotype
  • Antley Bixler Syndrome with Disordered Steroidogenesis
  • Antley Bixler Syndrome, Autosomal Dominant
  • Antley-Bixler Syndrome with Disordered Steroidogenesis
  • Antley-Bixler Syndrome, Autosomal Dominant
  • Multisynostotic Osteodysgenesis
  • Osteodysgenesis, Multisynostotic
  • Phenotype, Antley-Bixler Syndrome
  • POR Deficiency
  • Syndrome Phenotype, Antley-Bixler
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