Genetic Testing in Hirschsprung Disease.

Authors

Michele Spencer-Manzon, Robert A Cowles, Allan M Goldstein

Published in

Gastroenterology clinics of North America. Volume 55. Issue 4. Pages 707-720. Epub Sep 11, 2026.

Abstract

Hirschsprung disease (HSCR) is a congenital disorder of enteric nervous system development with a significant but complex genetic basis. While RET mutations predominate, variants in greater than 20 genes have been identified and may occur in isolated or syndromic forms. Genetic testing can identify associated conditions, inform cancer risk, and guide counseling for families regarding recurrence risk, although incomplete penetrance and variable expressivity complicate interpretation. This article provides a practical framework for evaluating HSCR patients, reviews key genetic causes and associated syndromes, and proposes an approach to genetic referral and testing to optimize clinical care and family counseling.

PMID:
42933942
Bibliographic data and abstract were imported from PubMed on 27 Oct 2026.

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