Di George Syndrome - Nomenclature

Nomenclature

The signs and symptoms of 22q11 deletion syndrome are so varied that different groupings of its features were once regarded as separate conditions. These original classifications included velo-cardio-facial syndrome, Shprintzen syndrome, DiGeorge sequence/syndrome, Sedlackova syndrome and conotruncal anomaly face syndrome. All are now understood to be presentations of a single syndrome.