Louise Montalva, Lily S Cheng, Raj Kapur, Jacob C Langer, Dominique Berrebi, Kristiina Kyrklund, Mikko Pakarinen, Ivo de Blaauw, Arnaud Bonnard, Ankush Gosain
Hirschsprung disease (HSCR) is a rare congenital intestinal disease that occurs in 1 in 5,000 live births. HSCR is characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the intestine. Most patients present during the neonatal period with the first meconium passage delayed beyond 24 h, abdominal distension and vomiting. Syndromes associated with HSCR include trisomy 21, Mowat-Wilson syndrome, congenital central hypoventilation syndrome, Shah-Waardenburg syndrome and cartilage-hair hypoplasia...
October 12, 2023: Nature Reviews. Disease Primers