Hirschsprung DiseaseSymptoms, Doctors, Treatments, Advances & More
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.
Hira Ahmad is a General Surgeon in Orange, California. Dr. Ahmad is rated as an Elite provider by MediFind in the treatment of Hirschsprung Disease. Her top areas of expertise are Hirschsprung Disease, Imperforate Anus, VACTERL Association, Colostomy, and Bladder Reconstruction. Dr. Ahmad is currently accepting new patients.
Atrium Health Levine Children's Gastroenterology
Jason Dranove is a Pediatric Gastroenterologist and a Hepatologist in Charlotte, North Carolina. Dr. Dranove is rated as an Advanced provider by MediFind in the treatment of Hirschsprung Disease. His top areas of expertise are Hirschsprung Disease, Neurogenic Bowel, Total Intestinal Aganglionosis, and Bowel Incontinence. Dr. Dranove is currently accepting new patients.
ETSU Physicians & Associates- Pediatric Surgery
. Dr. Taylor is rated as an Advanced provider by MediFind in the treatment of Hirschsprung Disease. Her top areas of expertise are Infantile Pyloric Stenosis, Pilonidal Sinus Disease, Retroperitoneal Inflammation, and Undescended Testicle.
Summary: The goal of this observational study is to create a single macro registry system with data collection on common clinical features, grouping the different rare diseases (RD). Moreover, the specific goals are to generate an alert system for possible cases of RD with data from the electronic medical record, to describe the occurrence of RD in the evaluated population, to characterize the population, ...
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...
Published Date: May 01, 2018
Published By: National Institutes of Health