Hirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine. This condition occurs when the nerves in the intestine (enteric nerves) do not form properly during development before birth (embryonic development). This condition is usually identified in the first two months of life, although less severe cases may be diagnosed later in childhood.
Isolated Hirschsprung disease can result from mutations in one of several genes, including the RET, EDNRB, and EDN3 genes. However, the genetics of this condition appear complex and are not completely understood. While a mutation in a single gene sometimes causes the condition, mutations in multiple genes may be required in some cases. The genetic cause of the condition is unknown in approximately half of affected individuals.
Hirschsprung disease occurs in approximately 1 in 5,000 newborns.
Approximately 20 percent of cases of Hirschsprung disease occur in multiple members of the same family. The remainder of cases occur in people with no history of the disorder in their families.
Weibing Tang practices in Nanjing, China. Tang is rated as an Elite expert by MediFind in the treatment of Hirschsprung Disease. They are also highly rated in 4 other conditions, according to our data. Their top areas of expertise are Hirschsprung Disease, Total Intestinal Aganglionosis, Atresia of Small Intestine, Ileostomy, and Colostomy.
David Coyle practices in Dublin, Ireland. Coyle is rated as an Elite expert by MediFind in the treatment of Hirschsprung Disease. He is also highly rated in 3 other conditions, according to our data. His top areas of expertise are Total Intestinal Aganglionosis, Hirschsprung Disease, Multiple Endocrine Neoplasia Type 2, Swyer Syndrome, and Colostomy.
Raquel Fernandez practices in Sevilla, Spain. Fernandez is rated as an Elite expert by MediFind in the treatment of Hirschsprung Disease. She is also highly rated in 5 other conditions, according to our data. Her top areas of expertise are Hirschsprung Disease, Total Intestinal Aganglionosis, Waardenburg Syndrome, and Waardenburg Syndrome Type 1.
Summary: The Hirschsprung and anorectal malformation quality of life (HAQL) questionnaire is a disease-specific quality of life questionnaire with 5 different elements (3 questionnaires for patients (categories: age 8-11, 12-16, and >17 years) and two questionnaires for parents of patients (categories: patients aged 8-11 and 12-16 years). In the first part of this study, the questionnaires will be translat...
Summary: This study aims to compare the outcomes of patients with long segment Hirschsprung disease or total colonic aganglionosis who had negative calretinin staining and positive ganglion cells on the proximal resection margins to those who had both positive findings.
Published Date: May 01, 2018Published By: National Institutes of Health