Syndromic Hirschsprung′s disease and its mode of inheritance.
- Author:
Jing-Ru ZHANG
1
;
Zhi-Bo ZHANG
Author Information
1. Department of Neonatal Surgery, Shengjing Hospital of China Medical University, Shenyang 110003, China. zhangzb@sj-hospital.org.
- Publication Type:Journal Article
- MeSH:
Hirschsprung Disease;
classification;
complications;
genetics;
Humans;
Syndrome
- From:
Chinese Journal of Contemporary Pediatrics
2018;20(5):428-432
- CountryChina
- Language:Chinese
-
Abstract:
Hirschsprung′s disease (HSCR) is one of the major causes of chronic incomplete intestinal obstruction in children. HSCR is considered a type of neurocristopathy caused by no colonization of ganglion cells on some parts of the bowel wall due to abnormal termination of the migration of vagal neural cells during embryonic development. This disease can be classified into different types according to the length of the affected intestinal canal. Most HSCR patients present with single deformity, but some HSCR patients are affected by other deformities, which constitutes syndromic HSCR, such as congenital central hypoventilation syndrome, Fryns syndrome, and cartilage-hair hypoplasia syndrome. Most syndromes have abnormal genetic material. An adequate knowledge of syndromic HSCR is of vital importance for accurate diagnosis and prognostic evaluation. This article reviews the clinical manifestations, genetic basis, and genetic modes of different types of syndromic HSCR.
