Disease, Hirschsprung


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.

Read Also:

  • Disease, hemolytic, of the newborn

    Disease, hemolytic, of the newborn: Abnormal breakup of red blood cells in the fetus or newborn.

  • Disease, His

    Disease, His: Named for the Swiss physician Wilhelm His, Jr. (who also described the bundle of His in the heart), this is a louse-borne disease first recognized in the trenches of World War I and so was called trench fever. Trench fever is a disease is estimated to have affected more than a million people […]

  • Disease, His-Werner

    Disease, His-Werner: Named for the Swiss physician Wilhelm His, Jr. (who also described the bundle of His in the heart) and the German physician Heinrich Werner (who was not the Werner who described Werner’s syndrome). This is a louse-borne disease that was first recognized in the trenches of World War I and so was called […]

  • Disease, Hodgkin (adult)

    Disease, Hodgkin (adult): A type of lymphoma (cancer of the lymphatic system). The most common symptom is painless swelling of the lymph nodes in the neck, underarm, or groin. Hodgkin disease is diagnosed when abnormal tissue is detected by a pathologist after a biopsy of an enlarged lymph node. Treatment usually includes radiation therapy or […]

  • Disease, Hodgkin (Hodgkin lymphoma)

    Disease, Hodgkin (Hodgkin lymphoma): A disease of the lymph nodes named after the English physician Thomas Hodgkin (1798-1866) who discovered it. (“Perfecting the World” is an excellent biography of Dr. Hodgkin by A. M. and E. H. Kass).


Disclaimer: Disease, Hirschsprung definition / meaning should not be considered complete, up to date, and is not intended to be used in place of a visit, consultation, or advice of a legal, medical, or any other professional. All content on this website is for informational purposes only.