The McKusick-Dungy-Kaufman syndrome is characterized by hydrometrocolpos, 
polydactyly and congenital heart disease. Two of these 3 main symptoms should be 
present for the diagnosis. Associated anomalies are mainly found in the 
urogenital tract, the gastro-intestinal tract and the skeletal system. On the 
basis of 2 patients and the literature the clinical features and the genetic 
aspects of this syndrome are reviewed. The clinical variability and the severity 
of the syndrome are stressed. Evidence for an autosomal recessive inheritance is 
given. Because of the clinical variability it seems preferable to use the term 
complex rather than syndrome.