Abstract

The risk of recurrence of Hirschsprung's disease in sibs is reasonably well established. Survivors of early successful operations (rectosigmoidectomy) are now reaching adult life and are asking about risks to their children. The authors report a preliminary study on which to base a risk estimate. Studies on sibs show that for short segment index patients the risk to brothers is about 1 in 20 and for sisters about 1 in 100. For long segment patients the risk is about 1 in 10 irrespective of sex. In the present study it was found that one son in 52 was possibly affected, and one daughter in 47 was certainly affected, of short segment index patients. Of long segment index patients one son in three was probably affected, and the one daughter was certainly affected. One long segment patient had a child with a short segment affected and one short segment patient had a child with a long segment affected. This confirms the impression, given by single case reports of parent and child affected, that there is less likelihood of concordance in length of aganglionic segment in parent and child than in sibs. For the present it is appropriate to give an estimated risk of about 2% for offspring of short segment index patients, but a relatively higher risk for offspring of long segment index patients.