Related MeSH Hierarchy (5)
Diseases [C] » Musculoskeletal Diseases [C05] » Bone Diseases » Bone Diseases, Developmental » Dysostoses » Synostosis » Antley-Bixler Syndrome Phenotype
Diseases [C] » Musculoskeletal Diseases [C05] » Musculoskeletal Abnormalities » Synostosis » Antley-Bixler Syndrome Phenotype
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Musculoskeletal Abnormalities » Synostosis » Antley-Bixler Syndrome Phenotype
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Steroid Metabolism, Inborn Errors » Antley-Bixler Syndrome Phenotype
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Steroid Metabolism, Inborn Errors » Antley-Bixler Syndrome Phenotype
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). MeSH
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