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22q11.2 deletion syndrome

Dr Yuranga Weerakkody and Dr Gagandeep Singh et al.

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.

Epidemiology

The estimated incidence is at ~ 1 in 2000 to 4000 live pregnancies ^ref.

Clinical features

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 3^rd and 4^th pharyngeal pouches that result in defective development of the parathyroid and thymus which can intrun give
- hypoparathyroidsm and
- hypocalcaemia

Pathology

Genetics

There is a near universal association with a deletion within chromosome 22q11.2. The majority of cases have de novo mutations.

Associations

Etymology

It was first described in 1968 by Angelo DiGeorge

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References

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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?
Velocardiofacial Syndrome	✓
Chromosome 22q.11 deletion syndrome	✓
Di George syndrome	✗
Shprintzen syndrome	✓
DiGeorge syndrome	✓
22q11 deletion syndrome	✗
Velocardiofacial syndrome (VCFS)	✗
22q deletion syndrome	✗
Cayler cardiofacial syndrome	✓
Conotruncal anomaly face syndrome (CTAF)	✗
Conotruncal anomaly face syndrome	✓