DiGeorge Syndrome (22q11 Deletion)

This syndrome affects around one in every 4,000 births, and is caused by missing piece of a chromosome.

This syndrome is the result of a deletion on the long arm of chromosome 22.  It is also known as DiGeorge syndrome, Shpritzen syndrome and Velocardiofacial syndrome.

It can cause a large number of anomalies including characteristic facial features, cardiac anomalies, palate problems, low blood calcium levels, and low immunity.

People with this syndrome may have many or only some of the possible problems and each of these to a varying degree. So, for example, the palatal problems may be an isolated cleft palate, a submoucous cleft palate, or a soft palate that looks normal but does not function normally causing problems with speech and sometimes feeding, or no palate problems at all.

More Information

NHS Page on DiGeorge Syndrome and 22q11 Deletion

The International 22q11 Foundation

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