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Diseases » DiGeorge's syndrome » Glossary

Glossary for DiGeorge's syndrome

$22q11.2 deletion syndrome$: A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans.
Additional Heart Sounds: A heart sound that is heard in addition to the normal two beats.
Chromosome conditions: Various genetic conditions where a chromosome is partially or totally misplaced.
Chromosome deletion syndromes: Genetic conditions where a large part of a chromosome is missing.
Congenital heart disease: Heart defects that a baby is born with.
DiGeorge syndrome: 22q11.2 deletion syndrome is a genetic disorder which can result in a vast array of symptoms. Various names have been used to describe different manifestations of the syndrome. Di George Syndrome primarily involves an underdeveloped thymus and parathyroid glands which results in lowered immunity low blood calcium levels respectively. Another primary feature is heart defects. Various other variable features are also present. It is not uncommon for patients to have more than one of the 22q11.2 deletion syndrome subtypes which can make diagnosis confusing - other subtypes include Sphrintzen syndrome, Caylor cardiofacial syndrome and CATCH 22.
Heart failure: Slow failure of the heart (cardiac insufficiency).
Hypoparathyroidism: A condition where the parathyroid glands don't produce enough parathyroid hormone for normal body functioning. The primary function of these hormones is to regulate body calcium levels.
Hypothyroidism: Too little thyroid hormone production.
Immune deficiency: Any of various diseases that suppress the immune system.
Immune disorders: Disorders that affect the immune system
Immune symptoms: Symptoms affecting the immune system
Primary Immune Deficiency: Various types of immune deficiencies; usually genetic.
Recurrent infections: Recurrent infections that occur throughout the year.
Thymus disorders: Any disorder that affects the thymus
Thyroid symptoms: Symptoms affecting the thyroid gland
Ventricular septal defect: An abnormal connection between the 2 lower chambers (ventricles) of the heart.