Many patients have an identifiable genetic cause of Hirschsprung’s disease

As Arshad and colleagues point out, some patients with Hirschsprung’s disease will have a family history.1 Many patients will also have an identifiable genetic cause.

For example, RET mutations may account for up to 41% of non-syndromic Hirschsprung’s disease and half of all familial disease. There are further monogenic causes for both non-syndromic and syndromic Hirschsprung’s disease. Syndromic causes include neurofibromatosis type 1, Smith-Lemli-Opitz syndrome, and multiple endocrine neoplasia type 2 (caused by RET mutations), and around 12% have a genetic cause. These include Down’s syndrome, but also several small chromosome deletions.2 It may be helpful for the family and clinicians to know who and whose children are at risk of Hirschsprung’s disease. Your local regional genetics service would be happy to discuss appropriate investigations.