Specialist Web Sites

 C22 Central

Chromosome 22 Central is a registered charity based in Canada but with an international perspective. Their organisation promotes networking, information sharing around all C22 Disorders.

 Max Appeal

UK based support organisation for DiGeorge, VCFS and related Syndromes. Their website provides very useful factsheets and links.
 Max Appeal Educational Factsheet

Factsheet from Max Appeal providing an excellent overview of educational issues for children with 22q11 deletions
 NICE Evidence Search

Review of guidance and research by NICE
 Phelan-McDermid Syndrome

It is the mission of the Phelan-McDermid Syndrome Foundation to improve the quality of life of people affected by PMS worldwide by providing family support, accelerating research and raising awareness.
 VCFS Educational Foundation

An NFP organisation providing support and information to families and professionals of children affected by Velocardiofacial Syndrome

DiGeorge syndrome

Wikipedia Extract : View Full Article

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by the deletion of a small segment of chromosome 22.

While the symptoms can be variable, they often include congenital heart problems, specific facial features, frequent infections, developmental delay, learning problems and cleft palate. Associated conditions include kidney problems, 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 occurs due to a new mutation during early development, while 10% are inherited from a person's parents. 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.

Although there is no cure, treatment can improve symptoms. This often includes a multidisciplinary approach with efforts to improve the function of the potentially many organ systems involved. Long-term outcomes depend on the symptoms present and the severity of the heart and immune system problems. With treatment, life expectancy may be normal.

DiGeorge syndrome occurs in about 1 in 4,000 people.

The syndrome was first described in 1968 by American physician Angelo DiGeorge. In late 1981, the underlying genetics were determined.