We report five patients with ectodermal dysplasia, ectrodactyly associated with 
syndactyly or cleft hand or both, and, in addition, macular dystrophy which was 
presumed to be progressive, in an isolated population on a remote island in 
Japan. The heredity of this syndrome was thought to be autosomal recessive. 
Three cases have been reported so far with a combination of the same 
abnormalities. The parents in these cases were consanguineous.