Cystic renal disease presenting in pregnancy: a novel presentation of oral-facial-digital syndrome type 1

Abstract

Oral-facial-digital (OFD) syndrome type 1 is a rare Xlinked dominant condition caused by mutations in the OFD1 gene on Xp22, which is lethal in affected males [1]. Females display a highly variable expressivity of polycystic kidneys, oral, facial and digital abnormalities. Structural central nervous system anomalies may occur and some affected females have intellectual disability. The diagnosis is usually made in childhood, although occasionally the condition may not be identified until later adulthood. We describe an unusual presentation of cystic renal disease in a 34-year-old pregnant woman, who was subsequently found to have OFD syndrome type 1.