Rudiger Syndrome

Rudiger et al. (1971) described a brother and sister with coarse facies, prominent forehead, flat nasal bridge, stubby nose, and protuberant upper lip. They both had low-pitched, hoarse voices, short digits, palmar flexion contractures, hypoplastic fingernails, and bilateral ureterovesical stenosis. The female had bicornuate uterus and cystic ovaries. The male had a small penis and large inguinal hernias. Both had bilateral simian creases. A high axial triradius and simple arches on all digits were found. Both children died in early infancy. There are some similarities to the hand-foot-uterus syndrome (140000) and to camptobrachydactyly (114150).