label: Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis
label_lc: antley-bixler syndrome with genital anomalies and disordered steroidogenesis
description: An autosomal recessive condition caused by mutation(s) in the POR gene, encoding NADPH--cytochrome P450 reductase. It is exceptionally rare, characterized by craniosynostosis, radiohumeral synostosis, genital anomalies, and impaired steroidogenesis.