Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - ABS1