Practice Easily Missed?

Hirschsprung’s disease

BMJ 2012; 345 doi: (Published 01 October 2012) Cite this as: BMJ 2012;345:e5521

Re: Hirschsprung’s disease

Thank you very much to Arshad et al. for their review of Hirschsprung disease, including the comment that a number of patients will have a family history. It is worth pointing out that many patients will have an identifiable genetic cause.

For example, RET mutations may account for up to 41% of non-syndromic Hirschsprung disease, and half of all familial disease. There are further monogenic causes for both non-syndromic and syndromic Hirschsprung disease. Syndromic causes include NF1 (neurofibromatosis type 1), SLO (Smith-Lemli-Opitz), plus MEN2 (multiple endocrine neoplasia type 2) due to RET mutations, and around 12% will have a chromosomal cause. These include Down syndrome but also a number of small chromosome deletions. It may be very helpful both for the family and their clinicians to know who or whose children are at risk of Hirschsprung disease. Your local regional genetics service would be very happy to discuss appropriate investigations.

Yours sincerely.

Ref. Parisi MA. Hirschsprung Disease Overview. 2002 Jul 12 [Updated 2011 Nov 10]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from: Accessed 27/11/12.

Competing interests: No competing interests

27 November 2012
Francis H Sansbury
Academic clinical fellow / specialty registrar in clinical genetics
Sian Ellard, Charles Shaw-Smith, Peter Turnpenny
Peninsula Clinical Genetics Service, and Department of Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust
Royal Devon & Exeter Hospital (Heavitree), Gladstone Road, Exeter, Devon EX1 2ED