The McKusick-Kaufman syndrome: recessively inherited vaginal atresia, hydrometrocolpos, uterovaginal duplications, anorectal anomalies, postaxial polydactyly, and congenital heart disease.
D000015:Abnormalities, Multiple; D001003:Anal Canal / Q000002:abnormalities; D003241:Consanguinity; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005808:Genes, Recessive; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D012007:Rectum / Q000002:abnormalities; D014034:Toes / Q000002:abnormalities; D014591:Uterine Diseases / Q000235:genetics*; D014599:Uterus / Q000002:abnormalities*; D014621:Vagina / Q000002:abnormalities*; D014623:Vaginal Diseases / Q000235:genetics*