DiGeorge syndrome is a rare congenital (i.e. present at birth) disease whose symptoms vary greatly between individuals but commonly include a history of recurrent infection, heart defects, and characteristic facial features. Di George syndrome is an inherited condition that affects more than 1 in 4,000 births.
It lies at the more severe end of a spectrum of syndromes (also known as CATCH22 or 22q11.2 deletion syndrome) that occur when a part of the DNA on chromosome 22 is missing. In most cases, there is no family history of 22q11.2 deletion but DiGeorge may be passed on in an autosomal dominant fashion. In some families, several members are affected. 90 per cent of cases of DiGeorge may now be attributed to a 22q11.2 deletion, but other chromosome defects have been identified, for example, on chromosome ten or 18.
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.
In DiGeorge syndrome the parathyroid glands which regulates the concentration of calcium in the blood, and the thymus gland which transforms certain lymphocytes into T-Cells (responsible for cellular and long term immune reactions), do not develp correctly in the womb or are absent. Infants may be susceptible to infection as the immune system is weakened and they may be prone to siezures due to low levels of calcium in the blood.
DiGeorge syndrome can't be cured, but ante natal diagnosis is possible if there is a family history. Low calcium can be treated and surgery for heart problems and thymus cell transplants can help. Educational support and help for the family is vital.