DiGeorge syndrome

DiGeorge syndrome, or 22q11.2 deletion syndrome, is a genetic disorder caused by the deletion of a small segment of chromosome 22.^[7] The symptoms are caused by the lack of those genes.

DiGeorge syndrome
Other names	DiGeorge anomaly,[1][2] velocardiofacial syndrome (VCFS),[3] Shprintzen syndrome,[4] conotruncal anomaly face syndrome (CTAF),[5] Takao syndrome,[6] Sedlackova syndrome,[7] Cayler cardiofacial syndrome,[7] CATCH22,[7] 22q11.2 deletion syndrome[7]
A child with DiGeorge syndrome
Medical specialty	Medical genetics
Symptoms	Variable; commonly congenital heart problems, specific facial features, cleft palate[7]
Complications	Kidney problems, hearing loss, autoimmune diseases[7]
Causes	Genetic (typically new mutation)[7]
Diagnostic method	Based on symptoms and genetic testing[5]
Differential diagnosis	Smith-Lemli-Opitz syndrome, Alagille syndrome, VACTERL, Oculo-auriculo-vertebral spectrum[5]
Treatment	Multidisciplinary[5]
Prognosis	Depends on the specific symptoms[3]
Frequency	1 in 4,000[7]

Symptoms

The symptoms often include congenital heart problems, facial features, infections, developmental delays, learning difficulties and cleft palate.^[7] Other conditions include but not limited to kidney problems, hearing loss and autoimmune diseases, such as rheumatoid arthritis or Graves disease.^[7]

DiGeorge syndrome is due to the deletion of 30 to 40 genes in the middle of chromosome 22 at a location known as 22q11.2.^[3] About 90% of cases occur due to a new mutation during early development, while 10% are inherited from a person's parents.^[7]

Genetics

The condition is autosomal dominant: only one affected chromosome is needed for the condition to occur.^[7] Diagnosis is suspected based on the symptoms and confirmed by genetic testing.^[5]

Although there is no cure, treatment can improve symptoms.^[3] This often includes efforts to improve the function of the many organ systems involved.^[8] Long-term outcomes depend on the symptoms present and the severity of the heart and immune system problems.^[3] With treatment, life expectancy may be normal.^[9]

Prevalence

DiGeorge syndrome occurs in about 1 in 4,000 people.^[7] The syndrome was first described in 1968 by American physician Angelo DiGeorge.^[10][11] In late 1981, the underlying genetics were determined.^[11]