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Deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 22. Velo-cardio-facial syndrome (VCFS) is a genetic condition that is related to DiGeorge Syndrome. DiGeorge anomaly (DGA) is a congenital immunodeficiency characterized by abnormal facies; congenital heart defects; hypoparathyroidism with hypocalcemia; cognitive, behavioral, and psychiatric problems; and increased susceptibility to infections. Pathological hallmarks include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. Babies with DiGeorge syndrome are born with a variety of different problems, some or all of which may be present to varying degrees. Short stature and variable mild to moderate learning difficulties are common. Sometimes the syndrome won't be detected until later in infancy, especially when problems are mild.
Most cases result from a deletion of a tiny part of chromosome 22 known as 22q11.2.This deletion means that several genes from this region are not present in DiGeorge syndrome patients. The mutation tends to result in disturbance of a process known as cervical neural crest migration in the forming embryo, which results in disruption of structures in the neck and upper chest. Although 90 per cent of cases of DGS may now be attributed to a 22q11 deletion, other chromosome defects have been identified. Conditions associated with the development of DiGeorge syndrome include diabetic embryopathy, fetal alcohol syndrome, and Zellweger syndrome. Major features of this syndrome have been designated by the Newcastle Upon Tyne Group CATCH 22.
Causes of Digeorge Syndrome
Common causes of Digeorge Syndrome
- Chromosome 22.
- Candidate gene.
Symptoms of Digeorge Syndrome
Common Symptoms of Digeorge Syndrome
- Hypertelorism .
- Learning difficulties.
- Hypocalcemia.
- Feeding problems
- Renal anomalies.
- Hearing loss.
- Laryngotracheoesophageal .
- Growth hormone deficiency.
- Autoimmune disorders.
- Seizures.
- Skeletal.
- Atism.
Treatment of Digeorge Syndrome
Common Treatment of Digeorge Syndrome
- Use the usual prophylactic regimens for T- and B-cell deficiency.
- Several therapies have been used to treat immunodeficiency associated with DiGeorge anomaly. Cases of immune reconstitution have been reported following transplantation of HLA-identical bone marrow, peripheral blood mononuclear cells, and fetal thymus. Some of these patients may have had partial DiGeorge anomaly, and improvement may have been coincidental.
- Markert et al reported a study of 5 patients with complete DiGeorge anomaly who were treated with allogeneic, cultured, postnatal thymus tissue. Of these patients, 4 developed immune reconstitution with T-cell proliferative responses to mitogens.
- Early thymus transplantation may promote successful immune reconstitution.
- Expectations for the course of the disease.
- Your opinion or preference.
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