The Kaufman-McKusick syndrome (MK 23670) is a rare autosomal recessive disorder 
characterized by the triad of hydrometrocolpos, postaxial polydactyly, and 
congenital heart disease. Multiple other anomalies have been ascribed to this 
syndrome. Hydrometrocolpos, especially if unrecognized, may be a serious, 
life-threatening condition in the newborn girl. Forty-four cases have been so 
far reported in the literature. A great phenotypic variability occurs in this 
syndrome, therefore making it very difficult to identify the disorder at its 
presentation and classify it correctly. We shall hereafter review current data 
regarding the prominent clinical features, the diagnosis and treatment of this 
syndrome. Problems in genetic counseling will be discussed.