Genetic Mosaicism in Hirschsprung's Disease

Genetics of Hirschsprung's Disease - Can Genetic Mosaicism Due to Early Somatic Mutations, Explain Disease Development?

Hirschsprung's disease is a complex genetic disorder. The etiology of this disease is not completely understood. It is characterized by the absence of ganglia (nerve cells) in de distal colon. This impairs bowel relaxation which can lead to bowel disfunction, toxic megacolon, ileus and enterocolitis. So far, several genes have been identified that play a role in Hirschsprung's disease. The precise mechanisms however, remain unclear. This study wants to identify new mutations and hopefully clarify more about the etiology of the disease.

Inclusion Criteria:

• All children with Hirschsprung's disease that will receive a corrective pull through procedure

Exclusion Criteria:

• None