200 top medical experts on Antley-Bixler Syndrome Phenotype across 22 countries and 3 U.S. states, including 8 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. 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).
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Synostosis (1,030), Inborn Errors Steroid Metabolism (385).
  4. Synonyms: Antley-Bixler Syndrome Type 1,  Antley-Bixler Syndrome Type 2,  Antley-Bixler Syndrome with Disordered Steroidogenesis,  Autosomal Dominant Antley-Bixler Syndrome,  Autosomal Recessive Antley-Bixler Syndrome


  

        

                    


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