Learn About Hirschsprung Disease

What is the definition of 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.

What are the causes of Hirschsprung Disease?

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.

How prevalent is Hirschsprung Disease?

Hirschsprung disease occurs in approximately 1 in 5,000 newborns.

Is Hirschsprung Disease an inherited disorder?

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.

Who are the top Hirschsprung Disease Local Doctors?
Elite in Hirschsprung Disease
Elite in Hirschsprung Disease

Erasmus MC

Rotterdam, ZH, NL 

Robert Hofstra practices in Rotterdam, Netherlands. Hofstra and 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.

Elite in Hirschsprung Disease
General Surgery | Pediatrics | Pediatric Surgery
Elite in Hirschsprung Disease
General Surgery | Pediatrics | Pediatric Surgery

Massachusetts General Physicians Organization Inc

55 Fruit St, 
Boston, MA 
Languages Spoken:
English, Spanish
Accepting New Patients
Offers Telehealth

Allan Goldstein is a General Surgeon and a Pediatrics provider in Boston, Massachusetts. Dr. Goldstein and 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, Short Bowel Syndrome, and Gastroparesis. Dr. Goldstein is currently accepting new patients.

 
 
 
 
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Elite in Hirschsprung Disease
Elite in Hirschsprung Disease
Sevilla, AN, ES 

Salud Borrego practices in Sevilla, Spain. Borrego and 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.

What are the latest Hirschsprung Disease Clinical Trials?
Impact of Providing Nursing Support on Parental Stress Related to Preoperative Care of a Newborn with Hirschsprung's Disease

Summary: Impact of providing nursing support on parental stress related to preoperative care of a newborn with Hirschsprung's disease

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Genetic Analysis of Hirschsprung Disease

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.

Who are the sources who wrote this article ?

Published Date: May 01, 2018
Published By: National Institutes of Health