Abstract

An Ashkenazi Jewish family is described, in which absence of distal interphalangeal creases of fingers with flexion limitation is transmitted through 4 generations with 8 affected individuals. The malformation is caused by an autosomal dominant gene with full penetrance and variable expressivity, and causes only little inconvenience. In one case the joints were normal on radiological examination. The malformation was not associated with any other anomaly except in the propositus who was referred becaused of profound mental retardation and cerebral palsy. This association is probably fortuitous as the other affected members were of above average intelligence. We were unable to find any report on this anomaly without associated malformations.