Renal cystic disease associated with orofaciodigital syndrome.

Abstract

Three families affected by the rare genetic disorder orofaciodigital syndrome, type I (OFD-1) were screened by computed tomography (CT) to determine the presence of cysts in the kidneys and liver, an association known to occur but not previously described in the radiologic literature. Renal cystic changes in four females with oral, facial, and digital malformations were variable and not distinguishable from other inherited cystic kidney diseases. One patient had biliary ectasia and hepatic cysts. "Polycystic" kidneys occurring only in female members of a family should suggest OFD-1, an X-linked dominant disorder that is lethal in utero in males. Patients known to have the syndrome should be screened for cystic renal disease.