DiGeorge syndrome
Medical condition caused by chromosomal abnormality / From Wikipedia, the free encyclopedia
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DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22.[7] While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental disability, intellectual disability and cleft palate.[7] Associated conditions include kidney problems, schizophrenia, hearing loss and autoimmune disorders such as rheumatoid arthritis or Graves' disease.[7][8]
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 characteristic facial features of DiGeorge syndrome | |
Specialty | Medical genetics |
Symptoms | Varied; 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] |
DiGeorge syndrome is typically 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.[7] It is autosomal dominant, meaning that 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 a multidisciplinary approach with efforts to improve the function of the potentially many organ systems involved.[9] 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.[10]
DiGeorge syndrome occurs in about 1 in 4,000 people.[7] The syndrome was first described in 1968 by American physician Angelo DiGeorge.[11][12] In late 1981, the underlying genetics were determined.[12]