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).

Also Known As:

Adrenal Hyperplasia, Congenital, Due To Cytochrome P450 Oxidoreductase Deficiency; Antley-Bixler Syndrome; 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 Phenotype; 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; Phenotype, Antley-Bixler Syndrome; Syndrome, Antley-Bixler; Syndrome, Trapezoidocephaly-Synostosis; Trapezoidocephaly Synostosis Syndrome; Trapezoidocephaly-Synostosis Syndromes; 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

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Dysostoses: 91
      - Synostosis: 796
        Antley-Bixler Syndrome Phenotype: 79
- Musculoskeletal Abnormalities: 43
  - Synostosis: 796
    - Antley-Bixler Syndrome Phenotype: 79
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Musculoskeletal Abnormalities: 43
    - Synostosis: 796
      - Antley-Bixler Syndrome Phenotype: 79
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Steroid Metabolism: 2
      - Antley-Bixler Syndrome Phenotype: 79
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Steroid Metabolism: 2
      - Antley-Bixler Syndrome Phenotype: 79

Hideharu Yamaguchi Selected Research

Hideharu Yamaguchi Research Topics

Disease

Therapy/Procedure