Association of ectodermal dysplasia, ectrodactyly, and macular dystrophy: the EEM syndrome.
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.
D000293:Adolescent; D000328:Adult; D002648:Child; D003241:Consanguinity; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005808:Genes, Recessive; D006801:Humans; D007564:Japan; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013576:Syndactyly / Q000235:genetics; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*