DiGeorge syndrome
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  DiGeorge syndrome



DiGeorge syndrome

   A genetic disorder characterized by hypocalcemia, immunodeficiency, and congenital heart disease: Hypocalcemia (low calcium levels in the blood) due to hypoplasia (underdevelopment) of the parathyroid glands that are needed to control calcium; Immunodeficiency due to hypoplasia (underdevelopment) of the thymus (an organ behind the breastbone needed for the maturation of lymphocytes into T cells); and Congenital heart disease with defects of the outflow tracts (the pulmonary artery and aorta) from the heart. Next to Down syndrome, DiGeorge syndrome is the most common genetic cause of congenital heart disease.

RELATED TERMS
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Genetic
Hereditary. Having to do with the genes.

Congenital
Present at birth.

Heart
The hollow, muscular organ responsible for pumping blood through the circulatory system.

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.

Calcium
Chemical element needed for healthy teeth, bones and nerves

Hypoplasia
Underdevelopment of a tissue or organ usually due to a decrease in the number of cells.

Thymus
The gland responsible for the production of certain white cells known as T-lymphocytes that are important for immune function. The thymus is very sensitive to excess cortisol.

Organ
A structural unit of an animal or plant that serves a specific function.

Pulmonary
Pertains to lungs and respiratory system.

Artery
A blood vessel that carries blood from the heart to the body.

Syndrome
A grouping of signs and symptoms, based on their frequent co-occurrence, that may suggest a common underlying pathogenesis, course, familial pattern, or treatment selection.



SIMILAR TERMS
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Digestants
Medicines that aid or stimulate digestion. An example is a digestive enzyme such as Lactaid for people with lactase deficiency.

Digestion
The process the body uses to break down food into simple substances for energy, growth, and cell repair.

Digestive system
The organs in the body that break down and absorb food. Organs that make up the digestive system are the mouth, esophagus, stomach, small intestine, large intestine, rectum, and anus. Organs that help with digestion but are not part of the digestive tract are the tongue, glands in the mouth that make saliva, pancreas, liver, and gallbladder.

Digestive system disorders
A general term for all disorders of the digestive system, which processesfood and eliminates waste.



PREVIOUS AND NEXT TERMS
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Differentiation therapy
An approach to the treatment of advanced or aggressive malignancies in which the malignant cells are treated so that they can resume the process of maturation and differentiation into mature cells.

Diffuse degeneration of gray matter with cirrhosis
A progressive disease of the nervous system characterized by spasticity (tightness), myoclonus and dementia and by liver problems with jaundice and cirrhosis.

Diffuse idiopathic skeletal hyperostosis
Abbreviated as DISH. A form of degenerative arthritis characteristically associated with flowing calcification along the sides of the vertebrae of the spine and commonly associated with inflammation (tendinitis) and calcification of the tendons at their attachments points to bone. Because areas of the spine and tendons can become inflamed, antiinflammatory medications (NSAIDs) such ibuprofen can be helpful in both relieving pain and inflammation.

Diffuse mastocytosis
A form of mastocytosis in which the entire skin is thickened and leathery with generalized reddening and intense pruritus (itching) due to widespread infiltration of the skin with mast cells.

Diffuse toxic goiter
Graves disease, the most common cause of hyperthyroidism (overactivity of the thyroid gland), with generalized diffuse overactivity ("toxicity") of the entire thyroid gland which becomes enlarged into a goiter.

DiGeorge syndrome

Digit, supernumerary
An extra finger or toe.

Digital rectal exam
An exam to detect abnormalities that can be felt (palpated) from within the rectum. The doctor inserts a lubricated, gloved finger into the rectum and feels for anything that is not normal.

Dihydroorotate dehydrogenase
An enzyme necessary to pyrimidine synthesis and therefore essential to the production of DNA and RNA. The drug leflunomide (Arava), an immunomodulatory agent, acts by specifically inhibiting dihydroorotate dehydrogenase.

Dihydroxyacetone
Also known as DHA, the active ingredient in most sunless tanning lotions.

Dilatation and curettage
A minor operation in which the cervix is expanded enough (dilatation) to permit the cervical canal and uterine lining to be scraped with a curet (or curette), an instrument shaped like a spoon. This procedure also is called D and C.

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