Hirschsprung megacolon and cleft palate in two sibs.
We describe a brother and sister with microcephaly, hypertelorism, short stature, submucous cleft palate, learning problems, and Hirschsprung aganglionic megacolon (HAM). Literature review failed to show any previous cases combining the above features.
D000293:Adolescent; D002648:Child; D002972:Cleft Palate / Q000150:complications*; D003878:Dermatoglyphics; D005145:Face / Q000002:abnormalities; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D006972:Hypertelorism / Q000150:complications; D008297:Male; D008531:Megacolon / Q000150:complications*; D008831:Microcephaly / Q000150:complications; D013577:Syndrome