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Antley-Bixler Syndrome Phenotype Summary

Description: 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).

Also Known As: Multisynostotic Osteodysgenesis; POR Deficiency; Antley Bixler Syndrome Phenotype; Antley Bixler Syndrome with Disordered Steroidogenesis; Antley Bixler Syndrome, Autosomal Dominant Show All >>

Networked: 16 relevant articles (0 outcomes, 1 trials/studies) for this Disease

Key Drugs and Agents for Antley-Bixler Syndrome Phenotype

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. Cytochrome P-450 Enzyme System (Cytochrome P450) : 1 study in 5 results : IBA
  2. Antley-Bixler syndrome : 6 results : IBA
  3. Estriol (Epiestriol) : 3 results : IBA
  4. Enzymes : 3 results : IBA
  5. Androgens : 2 results : IBA
  6. Type 2 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 2) : 1 result : IBA
  7. Testosterone (Sustanon) : 1 result : FDA 13
  8. Steroid 21-Hydroxylase (21 Hydroxylase) : 1 result : IBA
  9. Steroid 17-alpha-Hydroxylase (17 alpha Hydroxylase) : 1 result : IBA
  10. Dihydrotestosterone (Androstanolone) : 1 result : IBA
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Diseases Related to Antley-Bixler Syndrome Phenotype

  1. Virilism (Virilization)
  2. Disorders of Sex Development (Intersexuality)
  3. Craniosynostoses (Craniosynostosis)
  4. Contracture
  5. Pathologic Constriction (Stenosis)
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Key Therapies for Antley-Bixler Syndrome Phenotype

Efficacy Chart >>

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