P182: Clinical spectrum of Hirschsprung disease: A 35-year cohort analysis of phenotypic variability and syndromic associations
Abstract
Hirschsprung disease (HSCR) is a multifactorial neuro-developmental disorder of the enteric nervous system that results in impaired intestinal motility and colonic functional obstruction. The condition has high heritability (>80%) and shows variable penetrance and expressivity, with ∼70% of cases occurring in isolation and the remaining 30% as part of syndromic conditions such as Down and Mowat-Wilson syndromes. Despite these well-recognized associations, the broader phenotypic spectrum of HSCR, particularly in “non-syndromic” contexts, remains incompletely defined.
Fields of Study & Subjects
Congenital gastrointestinal and neural anomalies
Intestinal Malrotation and Obstruction Disorders
Spinal Dysraphism and Malformations
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103676–103676
- Publication date
- 1 January 2026
- Language
- EN