- Disease, Hirschsprung
- A congenital abnormality (birth defect) of the bowel in which there is absence of the ganglia (nerves) in the wall of the bowel. Nerves are missing starting at the anus and extending a variable distance up the bowel. This results in megacolon (massive enlargement of the bowel) above the point where the nerves are missing. (The nerves are needed to assist in the natural movement of the muscles in the lining of our bowels which move bowel contents through.) Hirschsprung disease is an important condition. It is the commonest cause of lower intestinal blockage (obstruction) in the newborn period and later in infancy and childhood, Hirschsprung disease is a cause of chronic constipation. The most common symptoms of the disorder are vomiting, constipation, distention (swelling) of the abdomen, and intestinal obstruction. There is a male predominance of about 4 to 1 in Hirschsprung disease — 4 boys to each girl. Hirschsprung disease can be caused by dominant mutations in the RET oncogene and by recessive mutations in a gene called the endothelin receptor type B gene on 13q22. There are a number of disorders in which Hirschsprung disease is a feature. They include Down syndrome), Waardenburg syndrome, cartilage-hair hypoplasia, the Smith-Lemli-Opitz syndrome (type II) and primary central hypoventilation syndrome (known as Ondine's curse). Hirschsprung disease is also called aganglionosis, congenital aganglionic megacolon, congenital intestinal aganglionosis, and megacolon.
Medical dictionary. 2011.
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Hirschsprung disease — A congenital abnormality (birth defect) of the bowel in which there is absence of the ganglia (nerves) in the wall of the bowel. Nerves are missing starting at the anus and extending a variable distance up the bowel. This results in megacolon… … Medical dictionary
Hirschsprung's disease — Hirsch·sprung s disease hirsh .pru̇ŋz n megacolon that is caused by congenital absence of ganglion cells in the muscular wall of the distal part of the colon with resulting loss of peristaltic function in this part and dilatation of the colon… … Medical dictionary
Hirschsprung's disease — noun congenital condition in which the colon does not have the normal network of nerves; there is little urge to defecate so the feces accumulate and cause megacolon • Syn: ↑congenital megacolon • Hypernyms: ↑genetic disease, ↑genetic disorder,… … Useful english dictionary
Hirschsprung's disease — a congenital condition in which the rectum and sometimes part of the lower colon have failed to develop a normal nerve network. The affected portion does not expand or conduct the contents of the bowel, which accumulate in and distend the upper… … The new mediacal dictionary
Disease — Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the… … Medical dictionary
Hirschsprung — Harald, Danish physician, 1830–1916. See H. disease … Medical dictionary
Hirschsprung&’s disease — (= HSCR) See Waardenburg&’s syndrome. Aganglionic megacolon a congenital malformation caused by absence of ganglion cells in myenteric and submucosal neural plexuses of gut. In some cases defect is due to mutation in RET receptor tyrosine kinase … Dictionary of molecular biology