Alternative Names
Autosomal dominant Opitz G/BBB syndrome; CATCH22; Cayler cardiofacial syndrome; Conotruncal anomaly face syndrome (CTAF); Deletion 22q11.2 syndrome; DiGeorge Syndrome; Sedlackova syndrome; Shprintzen syndrome; VCFS; Velocardiofacial syndrome; Velo-cardio-facial syndrome; 22q11.2 deletion syndrome
Symptoms & Characteristics
Deletion 22q11.2 syndrome is a genetic condition that affects the development of various parts of the body. The characteristics and symptoms vary greatly, even among affected members of the same family. Some of major characteristics and symptoms include:
- developmental delay or learning disabilities
- congenital heart defects (especially ventricular septal defects and Tetralogy of Fallot)
- opening in roof of the mouth (cleft palate)
- problems with recurrent infections
- autoimmune conditions (such as rheumatoid arthritis or thyroid issues)
- attention deficit disorder
- mental illness (such as schizophrenia, depression, anxiety and bipolar disorder)
- mild facial features differences (such as a broad nose, long face, almond-shaped eyes, and small ears)
- low blood platelets (thrombocytopenia)
- mild short stature or spinal problems (such as scoliosis)
Because the features of deletion 22q11.2 syndrome are so varied and most affected people have only some of them, different groupings of features were once described as completely separate genetic conditions. Some of these conditions included DiGeorge syndrome, velocardiofacial syndrome (also called Shprintzen syndrome), and conotruncal anomaly. However, we now know that the genetic cause of all these conditions is the same, so they are now considered one genetic condition.
Treatment
There is no cure for deletion 22q11.2 syndrome. However, early diagnosis, routine surveillance and treatment can help to manage some of the symptoms and sometimes prevent related problems.
How Common Is It?
About 1 in 4,000 people are affected with deletion 22q11.2 syndrome.
Genetics & Inheritance
Deletion 22q11.2 syndrome is caused by the deletion of genetic material from a region (called the DGCR region) of chromosome 22 at the location q11.2.
The DGCR region contains 30 to 40 genes, many of which have not been well characterized and are currently under investigation. Researchers believe that a loss of several of the genes in this region probably contributes to the different characteristics of this disorder.
- For example, one gene in this region, COMT, is thought to be associated with mental illness, while another gene, TBX1, is thought to be associated with heart defects, cleft palate, some of the facial features, hearing loss, and low calcium levels.
We typically have two normal copies of this chromosome region, one from each parent. In deletion 22q11.2 syndrome, having one deleted DGCR region is sufficient to cause the condition. This is called autosomal dominant inheritance.
- About 93% of affected people are the first one in their family to be affected. Their chromosome deletion occurs sporadically. An affected person has a 50% chance with each pregnancy to have an affected child.
Due to the variability of symptoms, parents of an affected person may want to consider genetic testing for deletion 22q11.2 syndrome themselves. The benefits and limitations of such testing should be discussed with a qualified health care professional.
- If both parents have negative genetic testing, the recurrence risk to have another affected child may still be increased over the general population. This may be due to a complex concept called germline mosaicism in which some of a person's egg or sperm cells may have the disease causing DGCR region deletion, while the rest of the cells in their body do not.
There are other genetic conditions that have features that overlap with deletion 22q11.2 syndrome. Some of these conditions include Alagille syndrome, Goldenhar syndrome and Williams syndrome. A genetic consultation with a trained genetic professional is important for a complete evaluation, accurate diagnosis, as well as discussion of the benefits and limitations of testing and recurrence risk.
Genetic Testing
Clinical genetic testing for deletion 22q11.2 syndrome may be available through an in person genetic consultation for people who are considered at risk. Use our find a genetic professional directory to locate a trained genetic professional in your area.
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