What is Hirschsprung disease?

Hirschsprung disease is 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.)

How important is Hirschsprung disease?

Very important. Hirschsprung disease is the commonest cause of lower intestinal blockage (obstruction) in the newborn period. Later in infancy and childhood, Hirschsprung disease is a cause of chronic constipation .

What are the symptoms of Hirschsprung disease?

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.

Are genes involved in Hirschsprung disease?

Yes. 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.

Does Hirschsprung disease occur in other disorders?

Yes. 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 entral hypoventilation syndrome (known as Ondine's curse ).

Are there other names for Hirschsprung disease?

Hirschsprung disease has other names, including aganglionosis, congenital aganglionic megacolon , congenital intestinal aganglionosis, and megacolon.

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