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DiGeorge syndrome

T cell deficiency disease that is the result of a large deletion of chromosome 22, which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production

Key facts

Other names: DiGeorge anomaly, velocardiofacial syndrome (VCFS), Shprintzen syndrome, conotruncal anomaly face syndrome (CTAF), Takao syndrome, Sedlackova syndrome, Cayler cardiofacial syndrome, CATCH22, 22q11.2 deletion syndrome
Specialty: Medical genetics
Symptoms: Varied; commonly congenital heart problems , specific facial features, cleft palate
Complications: Kidney problems , hearing loss , autoimmune disorders
Usual onset: Congenital
Causes: Genetic (typically new mutation)
Diagnostic method: Based on symptoms and genetic testing
Differential diagnosis: Smith–Lemli–Opitz syndrome , Alagille syndrome , VACTERL , Oculo-auriculo-vertebral spectrum
Treatment: Involves many healthcare specialties
Prognosis: Depends on the specific symptoms
Frequency

Article

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic disorder caused by a microdeletion on the long arm of chromosome 22. While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental disability, intellectual disability and cleft palate. Associated conditions include kidney problems, schizophrenia, hearing loss and autoimmune disorders such as rheumatoid arthritis or Graves' disease.

DiGeorge syndrome is typically due to the deletion of 30 to 40 genes in the middle of chromosome 22 at a location known as 22q11.2. About 90% of cases occur due to a new mutation during early development, while 10% are inherited. It is autosomal dominant, meaning that only one affected chromosome is needed for the condition to occur. Diagnosis is suspected based on the symptoms and confirmed by genetic testing.