DiGeorge syndrome
Sign in to saveAlso known as DiGeorge sequence (disorder), DiGeorge's syndrome, Pharyngeal pouch syndrome, 22q11.2 deletion syndrome, DiGeorge sequence, DGS
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
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
- 1 in 4,000
via Wikipedia infobox
Research
3,809 papers- Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).Medicine · 2011
- Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management.Current allergy and asthma reports · 2023
- DiGeorge syndrome: an update.Current opinion in cardiology · 2004
- Clinical Manifestations of 22q11.2 Deletion Syndrome.Heart failure clinics · 2022
- DiGeorge syndrome/chromosome 22q11.2 deletion syndrome.Current allergy and asthma reports · 2001
via PubMed
Wikidata facts
- Subclass of
- disease
- Named after
- Angelo DiGeorge
- Image
- DiGeorge syndrome1.jpg
Show 8 more facts
- Commons category
- DiGeorge syndrome
- NCI Thesaurus ID
- C2989
- health specialty
- medical genetics
- discoverer or inventor
- Angelo DiGeorge
- exact match
- identifiers.org/doid/DOID:11198
- ICD-9-CM
- 279.11
- external data available at URL
- www.nanbyou.or.jp/entry/5317
- on focus list of Wikimedia project
- WikiProject Medicine
Sources (6)
via Wikidata · CC0
~22 min read
Encyclopedic overview
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic disorder caused by a microdeletion on the long arm of chromosome 22. While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental disability, intellectual disability and cleft palate. Associated conditions include kidney problems, schizophrenia, hearing loss and autoimmune disorders such as rheumatoid arthritis or Graves' disease.
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. About 90% of cases occur due to a new mutation during early development, while 10% are inherited. It is autosomal dominant, meaning that only one affected chromosome is needed for the condition to occur. Diagnosis is suspected based on the symptoms and confirmed by genetic testing.
Excerpted from Wikipedia’s “DiGeorge syndrome” article, available under the CC BY-SA 4.0 licence.