Digeorge syndrome is a disorder gift at inborn, caused by problems within a developing embryo that happen payable to chromosome defects. It is too called thymic aplasia, thymic hypoplasia, or third and fourth pharyngeal archway or pocket syndrome.
History of exposure to alcohol and other toxins is also relevant because the phenotype associated with fetal alcohol syndrome resembles that of digeorge anomaly. Digeorge syndrome is caused by a large deletion from chromosome 22, produced by an error in recombination at meiosis. This deletion means that several genes from this region are not present in digeorge syndrome patients. Digeorge syndrome can be associated with parathyroid glands that are smaller than normal, which usually causes lower than normal secretion of hypoparathyroidism.
The symptoms of digeorge syndrome change greatly between individuals. The baby's eye defects may head to eye bankruptcy, or there may be seizures and new evidence of a reduced degree of calcium in the blood. Babies with digeorge syndrome are born with a kind of distinct problems, some or all of which may be existing to varying degrees. The parathyroid glands in the neck may have failed to develop, leading to low levels of calcium in the blood. This can result in muscle spasms and seizures. There may be a typical facial appearance with a small jaw, small, low-set ears with abnormal folds, unusual eyes, small mouth, a rather bulbous nose and square nasal tip, and hypernasal speech with a cleft palate. Sometimes the syndrome won't be detected until later in infancy, especially when problems are mild. Sometimes babies with digeorge syndrome have no detectable chromosome abnormality.
Diseorge anomaly usually is diagnosed shortly after birth because of abnormal facies or cardiac manifestations. Digeorge syndrome can't be cured, but treatment of problems such as low calcium, surgery for heart problems and thymus cell transplants to restore the immune system can reduce complications. Prenatal testing for Digeorge syndrome is widely available and is recommended for fetuses that have been detected as having cleft palate or heart malformation through ultrasound, and have at least one parent testing positive for the 22q11 microdeletion. Hypoparathyroidism and hypocalcemia are managed with calcium supplements and vitamin D administration. The goals of pharmacotherapy are to prevent calcium deficiency, reduce morbidity, and prevent complications. Severe cases have been treated by transplantation of fetal thymus tissue or bone marrow.
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