Hirschsprung DiseaseSymptoms, Doctors, Treatments, Advances & More
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 practicing medicine in Rotterdam, Netherlands. Mr. Hofstra is rated as an Elite expert by MediFind in the treatment of Hirschsprung Disease. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Hirschsprung Disease, Berdon Syndrome, Intestinal Pseudo-Obstruction, and Lynch Syndrome.
Salud Borrego practices practicing medicine in Sevilla, Spain. Borrego is rated as an Elite expert by MediFind in the treatment of Hirschsprung Disease. They are also highly rated in 5 other conditions, according to our data. Their clinical expertise encompasses Hirschsprung Disease, Retinopathy Pigmentary Mental Retardation, Retinitis Pigmentosa, and Late-Onset Retinal Degeneration.
Cincinnati Children's Hospital Medical Center
Jason Frischer is a Pediatric Surgeon practicing medicine in Cincinnati, Ohio. Dr. Frischer is rated as an Elite provider by MediFind in the treatment of Hirschsprung Disease. He is also highly rated in 11 other conditions, according to our data. His clinical expertise encompasses Hirschsprung Disease, Imperforate Anus, VACTERL Association, Sacral Nerve Stimulation, and Endoscopy. Dr. Frischer is currently accepting new patients.
Summary: Congenital central hypoventilation syndrome (CCHS) is a rare disorder of autonomic and respiratory regulation that frequently alters oxygen delivery to the brain. In CCHS, neurocognitive function has been of great concern because of the potential for repeated hypoxemia and hypercarbia in activities of daily living in addition to hypoventilation with related hypoxemia and hypercarbia during sleep. ...
Summary: The International Center for Colorectal and Urogenital Care at Children's Hospital Colorado treats patients who suffer from many different colorectal issues such as anorectal malformation, Hirschsprung disease, and severe constipation. Many of these patients suffer from fecal incontinence. The investigators have developed a week long bowel management program (BMP) that is offered every month to he...
Published Date: May 01, 2018
Published By: National Institutes of Health