FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Antley-Bixler syndrome with disordered steroidogenesis ID (Ontology) DOID:0050462 (Human Disease)
Definition An Antley-Bixler syndrome that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene.
Also Known As "trapezoidocephaly-synostosis syndrome"
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 Genes
 Antley-Bixler syndrome with disordered steroidogenesis       1
 for disease ribbon | Antley-Bixler syndrome with disordered steroidogenesis       1
 model of | Antley-Bixler syndrome with disordered steroidogenesis       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
craniosynostosis                 |
 |__Antley-Bixler syndrome_______|
disease                          |
 |__syndrome_____________________|
                                 Antley-Bixler syndrome with disordered steroidogenesis  1 rec.
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Is a autosomal recessive disease
Antley-Bixler syndrome
syndrome
Part of
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Synonyms
  • "trapezoidocephaly-synostosis syndrome" EXACT
Secondary IDs
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MIM:201750
SNOMEDCT_US_2021_09_01:62964007