Letters Hirschsprung’s disease

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

BMJ 2012; 345 doi: http://dx.doi.org/10.1136/bmj.e8199 (Published 03 December 2012) Cite this as: BMJ 2012;345:e8199
  1. Francis H Sansbury, academic clinical fellow/specialty registrar in clinical genetics1,
  2. Sian Ellard, professor of human molecular genetics2,
  3. Charles Shaw-Smith, consultant clinical geneticist1,
  4. Peter Turnpenny, consultant clinical geneticist1
  1. 1Peninsula Clinical Genetics Service, and Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Royal Devon and Exeter Hospital (Heavitree), Exeter EX1 2ED, UK
  2. 2University of Exeter Medical School, Royal Devon and Exeter Hospital (Wonford), Exeter EX2 5DW, UK
  1. fsansbury{at}nhs.net

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.


Cite this as: BMJ 2012;345:e8199


  • Competing interests: None declared.