Antley-Bixler Syndrome (POR)
Pathogenic variants in the gene POR cause an autosomal recessive disorder called Antley-Bixler syndrome, which is a disorder of steroidogenesis. Antley-Bixler syndrome is associated with a broad spectrum of phenotypes, including primary hypogonadism, cortisol deficiency, abnormal genitalia and reproductive abnormalities (delayed puberty, polycystic ovarian syndrome, infertility, and primary amenorrhea), as well as skeletal malformations (radiohumeral synotosis, craniosynostosis, joint contractures, and midface hypoplasia). Some phenotypes are present from the prenatal period. Pregnancies with severe skeletal malformations may result in stillbirth. Due to craniofacial abnormalities, there is a high incidence of airway compromise which is the primary cause of mortality in the neonatal period.
For information about carrier frequency and residual risk, please see the residual risk table.