Hirschsprung Disease Overview
Learn About Hirschsprung Disease
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.
Erasmus MC
Robert Hofstra practices in Rotterdam, Netherlands. Mr. Hofstra is rated as an Elite expert by MediFind in the treatment of Hirschsprung Disease. His top areas of expertise are Hirschsprung Disease, Berdon Syndrome, Intestinal Pseudo-Obstruction, and Lynch Syndrome.
Allan Goldstein is a General Surgeon and a Pediatric Surgeon in Boston, Massachusetts. Dr. Goldstein is rated as an Elite provider by MediFind in the treatment of Hirschsprung Disease. His top areas of expertise are Hirschsprung Disease, Intestinal Pseudo-Obstruction, Gastroparesis, and Short Bowel Syndrome. Dr. Goldstein is currently accepting new patients.
Salud Borrego practices in Sevilla, Spain. Borrego is rated as an Elite expert by MediFind in the treatment of Hirschsprung Disease. Their top areas of expertise are Hirschsprung Disease, Retinitis Pigmentosa, Retinopathy Pigmentary Mental Retardation, and Late-Onset Retinal Degeneration.
Summary: The project presented here is a monocentric clinical study conducted by the Pediatric Surgery and Pediatrics departments of the University Hospital Erlangen. The study aims to experimentally expand the diagnostic approach for patients aged 0-17 years suffering from chronic bowel emptying disorders, regardless of any underlying causal or previously treated conditions. At the core of this clinical s...
Summary: Hirschsprung disease is a genetic condition caused by lack of nerve cells in varying lengths of the intestines. This study will investigate the complex genetic basis of the disease, which involves multiple interacting genetic factors.
Published Date: May 01, 2018
Published By: National Institutes of Health