Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations. The disease is MONDO_0013310 (congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency). Also known as: POR deficiency, PORD, congenital adrenal hyperplasia due to cytochrome POR deficiency.