迪喬治症候群

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