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 From Wikipedia, the free encyclopedia
DiGeorge syndrome, or 22q11.2 deletion syndrome, is a syndrome caused by the deletion of a small segment of chromosome 22.[7] The symptoms are caused by the lack of those genes.
DiGeorge syndrome | |
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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 disorders[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 | Involves many healthcare specialties[5] |
Prognosis | Depends on the specific symptoms[3] |
Frequency | 1 in 4,000[7] |
The symptoms often include congenital heart problems, facial features, infections, developmental delay, learning problems and cleft palate.[7] Other conditions include kidney problems, hearing loss and autoimmune disorders 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]
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]
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]
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