When males are affected, they tend to be young and report significant bowel function symptoms, especially obstructed defecation, or have a predisposing disorder (e.g., congenital anal atresia).

Other symptoms include dermatoglyphics, tooth deformities or missing teeth, abnormal kidney development, shortened limbs, mental retardation, undescended testes or cryptorchidism, and anal atresia.

Two hundred and eighty five children, 1 month to 4 years of age, were evaluated between 1980 and 1989 by the investigator for difficulties in defecation because of underlying constipation, which is not due to Hirschsprung's disease, anal atresia, or spinal disease.