MeSH Browser

MeSH Heading: Antley-Bixler Syndrome Phenotype
Tree Number(s): 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
Unique ID: D054882
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D054882
Scope Note: 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).
Entry Term(s): Adrenal Hyperplasia, Congenital, Due To Cytochrome P450 Oxidoreductase Deficiency; Antley-Bixler Syndrome; 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; 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
Previous Indexing: Abnormalities, Multiple (1982-2008); Craniosynostoses (1982-2008); Syndrome (1982-2008); Synostosis (1982-2008)
See Also: NADPH-Ferrihemoprotein Reductase; Receptor, Fibroblast Growth Factor, Type 2
Public MeSH Note: 2009
History Note: 2009
Date Established: 2009/01/01
Date of Entry: 2008/07/08
Revision Date: 2021/05/10

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Musculoskeletal Diseases [C05]
- Bone Diseases [C05.116]
  - Bone Diseases, Developmental [C05.116.099]
    - Dysostoses [C05.116.099.370]
      - Synostosis [C05.116.099.370.894]
        
        Antley-Bixler Syndrome Phenotype [C05.116.099.370.894.115]
        
        Craniosynostoses [C05.116.099.370.894.232]
        
        Syndactyly [C05.116.099.370.894.819]
        
        Tarsal Coalition [C05.116.099.370.894.909]

Musculoskeletal Diseases [C05]
- Musculoskeletal Abnormalities [C05.660]
  - Synostosis [C05.660.906]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
  - Musculoskeletal Abnormalities [C16.131.621]
    - Synostosis [C16.131.621.906]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Steroid Metabolism, Inborn Errors [C16.320.565.925]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Steroid Metabolism, Inborn Errors [C18.452.648.925]

Antley-Bixler Syndrome Phenotype Preferred

Antley-Bixler Syndrome, Autosomal Dominant Narrower

Antley-Bixler Syndrome Related

Antley-Bixler Syndrome, Autosomal Recessive Narrower

Antley-Bixler Syndrome Phenotype MeSH Descriptor Data 2025