Cryptomicrotia-Brachydactyly Syndrome

Tonoki et al. (1988) described bilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toenails, and excess fingertip arch patterns in a mother and son who were chromosomally and mentally normal. The middle and distal phalanges of digits II through V were abnormally short. The son was noted at birth to have a bifid scrotum and chordee without hypospadias.