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Musculoskeletal Diseases > Musculoskeletal Abnormalities > Synostosis > Antley-Bixler Syndrome Phenotype
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Musculoskeletal Abnormalities > Synostosis > Antley-Bixler Syndrome Phenotype
... > Musculoskeletal Diseases > Bone Diseases > Bone Diseases, Developmental > Dysostoses > Synostosis > Antley-Bixler Syndrome Phenotype
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Steroid Metabolism, Inborn Errors > Antley-Bixler Syndrome Phenotype
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Steroid Metabolism, Inborn Errors > Antley-Bixler Syndrome Phenotype

Preferred term

Antley-Bixler Syndrome Phenotype  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • Antley Bixler Syndrome
  • Antley-Bixler Syndrome
  • Antley Bixler Syndrome, Autosomal Dominant
  • Antley-Bixler Syndrome, Autosomal Dominant
  • Antley Bixler Syndrome, Autosomal Recessive
  • Antley-Bixler Syndrome, Autosomal Recessive
  • Syndrome, Antley-Bixler

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).

History note

  • 2009

In other languages

URI

http://www.yso.fi/onto/mesh/D054882

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