EntityQ525642· pop 37· linked from 527 articles

डिजॉर्ज सिंड्रोम

Also known as DiGeorge sequence (disorder), DiGeorge's syndrome, Pharyngeal pouch syndrome, 22q11.2 deletion syndrome, DiGeorge sequence, DGS

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