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.

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