The 22q11.2 deletion syndrome (also known as the DiGeorge syndrome or velocardiofacial syndrome) is a variable syndrome where a a small portion of the chromosome 22 is lost and results in a variable but recognizable pattern of physical and behavioral features.
The estimated incidence is at ~ 1 in 2000 to 4000 live pregnancies ref.
- cleft lip - / + palate
- congenital heart disease (particularly conotruncal anomalies): often a major part of this syndrome
- charcateristic facies :
- elongated face
- long philtrum
- facial asymmetry
- prominent nose
- hypernasal speech
- learning disabilities
- decreased immuntity
- malformation of 3rd and 4th pharyngeal pouches that result in defective development of the parathyroid and thymus which can intrun give
There is a near universal association with a deletion within chromosome 22q11.2. The majority of cases have de novo mutations.
It was first described in 1968 by Angelo DiGeorge
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- 1. Wilson DI, Burn J, Scambler P et-al. DiGeorge syndrome: part of CATCH 22. J. Med. Genet. 1993;30 (10): 852-6. doi:10.1136/jmg.30.10.852 - Free text at pubmed - Pubmed citation
- 2. Lipson AH, Yuille D, Angel M et-al. Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise. J. Med. Genet. 1991;28 (9): 596-604. J. Med. Genet. (link) - Free text at pubmed - Pubmed citation
Synonyms & Alternative Spellings
|Synonyms or Alternative Spelling||Include in Listings?|
|Chromosome 22q.11 deletion syndrome||✓|
|Di George syndrome||✗|
|22q11 deletion syndrome||✗|
|Velocardiofacial syndrome (VCFS)||✗|
|22q deletion syndrome||✗|
|Cayler cardiofacial syndrome||✓|
|Conotruncal anomaly face syndrome (CTAF)||✗|
|Conotruncal anomaly face syndrome||✓|