obsolete_Antley-Bixler syndrome true DOID:50462 UMLS:C0265307 OMIM:207410 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). MedDRA:10083864 3.41.0 Replaced with Mondo term. MESH:D054882 MESH:C537780 http://purl.obolibrary.org/obo/MONDO_0008803 ICD10:Q87.0