Abdomen: The belly , that part of the body that contains all of the structures between the chest and the pelvis . The abdomen is separated anatomically from the chest by the diaphragm , the powerful muscle spanning the body cavity below the lungs .
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Anus: The opening of the rectum to the outside of the body.
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Birth defect: Any defect present in a baby at birth, irrespective of whether the defect is caused by a genetic factor or by prenatal events that are not genetic.
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Bowel: Another name for the intestine . The small bowel and the large bowel are the small intestine and large intestine , respectively.
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Childhood: (1) The time for a boy or girl from birth until he or she is an adult. (2) The more circumscribed period of time from infancy to the onset of puberty .
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Chronic: This important term in medicine comes from the Greek chronos, time and means lasting a long time.
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Congenital: Present at birth. A condition that is congenital is one that is present at birth. There are numerous uses of "congenital" in medicine. There are, for example, congenital abnormalities. (For more examples, see below.)
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Constipation: Infrequent (and frequently incomplete) bowel movements. The opposite of diarrhea, constipation is commonly caused by irritable bowel syndrome, diverticulosis, and medications (constipation can paradoxically be caused by overuse of laxatives). Colon cancer can narrow the colon and thereby cause constipation. The large bowel (colon) can be visualized by barium enema x-rays, sigmoidoscopy, and colonoscopy. Barring a condition such as cancer, high-fiber diets can frequently relieve the constipation.
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 rubella (German measles) virus.
Distention: The state of being distended, enlarged, swollen from internal pressure.
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Dominant: A genetic trait is considered dominant if it is expressed in a person who has only one copy of that gene. (In genetic terms, a dominant trait is one that is phenotypically expressed in heterozygotes).
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Down syndrome : A common chromosome disorder due to an extra chromosome number 21 (trisomy 21). Down syndrome causes mental retardation, a characteristic face, and multiple malformations. Down syndrome is a relatively common birth defect. The chromosome abnormality affects both the physical and intellectual development of the individual.
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Gene: The basic biological unit of heredity . A segment of deoxyribonucleic acid (DNA) needed to contribute to a function.
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Genes: The basic biological units of heredity . Segments of deoxyribonucleic acid (DNA) needed to contribute to a function.
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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 (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.)
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Hypoplasia: Underdevelopment or incomplete development of a tissue or organ. For example, there can be hypoplasia (underdevelopment) of the enamel of the teeth. Hypoplasia is less drastic than aplasia where there is no development at all.
Hypoventilation: The state in which a reduced amount of air enters the alveoli in the lungs, resulting in decreased levels of oxygen and increased levels of carbon dioxide in the blood. Hypoventilation can be due to breathing that is too shallow ( hypopnea ) or too slow ( bradypnea ) or to diminished lung function.
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Intestinal obstruction: Blockage of the intestine by infolding (intussusception), malformation, tumor, digestive problems, a foreign body, or inflammation. Symptoms can include crampy abdominal pain, lack of ability to eliminate normal feces, and eventually shock. On examining the abdomen, the doctor may feel a mass. Abdominal X-rays may suggest intestinal obstruction, but a barium enema may be needed to show the actual cause. Treatment depends on the cause of the obstruction. See also: Intussusception.
Male: The traditional definition of male was "an individual of the sex that produces sperm" (or some such). However, things are not so simple today. Male can be defined by physical appearance, by chromosome constitution (see Male chromosome complement), or by gender identification.
Megacolon: An abnormally enlarged colon.
Obstruction: Blockage of a passageway. See, for example: Airway obstruction; Intestinal obstruction.
Oncogene: 1. A gene that played a normal role in the cell as a proto-oncogene and that has been altered by mutation and now may contribute to the growth of a tumor.
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Ondine's curse: Failure from birth of central nervous system control over breathing while asleep. There are usually no breathing problems while awake. The involuntary (autonomic) control of respiration is impaired, but the voluntary control of ventilation which operates during waking hours is generally intact.
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Primary: First or foremost in time or development. The primary teeth (the baby teeth) are those that come first. Primary may also refer to symptoms or a disease to which others are secondary.
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Receptor: 1. In cell biology, a structure on the surface of a cell (or inside a cell) that selectively receives and binds a specific substance. There are many receptors. There is a receptor for ( insulin ; there is a receptor for low-density lipoproteins ( LDL ); etc. To take an example, the receptor for substance P, a molecule that acts as a messenger for the sensation of pain , is a unique harbor on the cell surface where substance P docks. Without this receptor, substance P cannot dock and cannot deliver its message of pain. Variant forms of nuclear hormone receptors mediate processes such as cholesterol metabolism and fatty acid production. Some hormone receptors are implicated in diseases such as diabetes and certain types of cancer. A receptor called PXR appears to jump-start the body's response to unfamiliar chemicals and may be involved in drug-drug interactions.
2. In neurology, a terminal of a sensory nerve that receives and responds to stimuli.
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Recessive: A condition that appears only in individuals who have received two copies of a mutant gene, one copy from each parent. The individuals with a double dose of the mutated gene are called homozygotes. Their parents, each with a single dose of the mutated gene, appear normal and are called heterozygotes, or gene carriers.
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Smith-Lemli-Opitz syndrome: A multiple congenital malformation syndrome caused by an abnormality in cholesterol metabolism, deficiency of the enzyme 7-dehydrocholesterol reductase (DHCR7), due to mutation of the DHCR7 gene on chromosome 11.
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Syndrome: A set of signs and symptoms that tend to occur together and which reflect the presence of a particular disease or an increased chance of developing a particular disease.
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Waardenburg syndrome: A genetic disorder that causes deafness , white forelock (a frontal white blaze of hair), a difference of color between the iris of one eye and the other (heterochromia iridis), white eye lashes, and wide-set inner corners of the eyes.
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From the Doctors at MedicineNet.com  |
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- Colonoscopy - Learn about the colonscopy procedure, what it is, why it is performed, preparation, complications, alternatives and the after effects of the screening exam on MedicineNet.com Source:MedicineNet
- Flexible Sigmoidoscopy - Read about flexible sigmoidoscopy procedure used to examine the lower portion of the colon and rectum. It may be used to investigate the cause of rectal bleeding, bowel changes, rectal pain, and diarrhea. Source:MedicineNet
- Abdominal Pain - Learn about abdominal pain (pain in the stomach / abdomen) including causes, symptoms, how abdominal pain is diagnosed, and how abdominal pain is treated. Source:MedicineNet
- Read 17 more Hirschsprung Disease related articles ...
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