/DiGeorge syndrome

DiGeorge syndrome

Rare Disease

MONDO:0008564

Also Known As

22q deletion syndrome(s)22q11.2 deletion syndromeDGSDGS1Di-George syndromeDiGeorge anomalyDiGeorge syndromeDiGeorge syndrome type 1DiGeorge's syndromepharyngeal pouch syndromeShprintzen syndromeSphrintzenCatch22DiGeorge syndrome chromosome regionTakao VCF syndromeVCFchromosome 22Q11.2 deletion syndromehypoplasia of thymus and parathyroidsthird and fourth pharyngeal pouch syndromevelo-cardio-facial syndromevelocardiofacial syndrome

Definition

A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.