Contributor: Gordon K. Klintworth
Potter syndrome is a serious autosomal recessive developmental disorder with bilateral agenesis of the kidneys and hypoplasia of the lungs. Affected individuals have an abnormal facies with a beak nose, receding chin, broad nasal bridge, epicanthal folds, and large low set ears. Potter syndrome is associated with oligohydramnios. Affected infants are stillborn or die within a few days of birth. The corneal is abnormal and neovascularization of the retina that resembles the retinopathy of prematurity is present.