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22q11.2 deletion syndrome, also known by several other names, including DiGeorge syndrome, velocardiofacial syndrome (also called Shprintzen syndrome), and conotruncal anomaly face syndrome, is a disorder caused by the deletion of a small piece of chromosome 22.
Common signs and symptoms include heart abnormalities that are present from birth, a cleft palate, impaired immune response, and distinctive facial features. Affected individuals may also have breathing problems, kidney abnormalities, low levels of calcium in the blood (which can result in seizures if not treated), significant feeding difficulties, gastrointestinal problems, and hearing loss. Abnormalities of the spinal bones may also occur.
Many children with 22q11.2 deletion syndrome have developmental delays, including delayed growth and speech development, and learning disabilities. Later in life, they are at an increased risk of developing mental illnesses such as schizophrenia, depression, anxiety, and bipolar disorder.
The features of this syndrome vary widely, even among affected members of the same family.
22q11.2 deletion syndrome occurs in about 1 in 4,000 live births. The condition is not related to race, nationality, religion or socioeconomic status. In approximately 10% of cases, the deletion is present because one of the parents has the same deletion and passes it on to their baby. As a result, parents of a baby born with 22q11.2 deletion syndrome should have a blood test to determine their chances of having other children with the syndrome.
Treatment depends on the needs of the child. Children with 22q11.2 deletion syndrome may need to be seen by a variety of specialties, including cardiology, audiology, endocrinology, neurology, orthopedics, and developmental and speech therapy. Additionally, a pediatric psychologist or group therapy may be helpful if they have social troubles.
The mission of the International 22q11.2 Foundation is "improving the quality of life for individuals affected by the 22q11.2 syndromes through family and professional partnerships."
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