What is 22q 11.2 deletion syndrome?

Overview. DiGeorge syndrome, more accurately known by a broader term — 22q11. 2 deletion syndrome — is a disorder caused when a small part of chromosome 22 is missing. This deletion results in the poor development of several body systems.

What is q22 deletion?

2 Deletion syndrome or 22q (also referred to as Velocardiofacialsyndrome (VCFS), and/or DiGeorge syndrome) is a disorder caused by a small missing piece of the 22nd chromosome. This tiny missing portion of chromosome 22 can affect every system in the human body.

What is the life expectancy of someone with 22q?

In about 1-2% of cases, patients completely lack T cells, and the condition is called complete DiGeorge syndrome. Without treatment, life expectancy for some children with complete DiGeorge syndrome is two or three years. However, most children with DiGeorge syndrome that is not “complete” survive to adulthood.

Is 22q11 2 deletion syndrome fatal?

Mortality in adults with 22q11. Twelve (11.8%; 4 M, 8 F) patients with 22q11. 2DS died at a median age of 41.5 (range 18.1–68.6) years. Table 2 shows age, cause of death, and accompanying features.

Is 22q deletion syndrome a disability?

Many children with 22q11. 2 deletion syndrome have developmental delays, including delayed growth and speech development, and some have mild intellectual disability or learning disabilities. Older affected individuals have difficulty reading, performing tasks involving math, and problem solving.

Can you live a normal life with DiGeorge syndrome?

DiGeorge syndrome is a severe genetic disorder that is noticeable at birth. At the very worst, it can result in heart defects, learning difficulties, a cleft palate and potentially many other problems. However, not everyone is severely affected and most people with the condition will live normal life spans.

Does DiGeorge syndrome affect intelligence?

Developmental delay is often seen in children with 22q11. 2 deletion syndrome, including a delay in language. As the child grows older, intellectual disability and learning differences are likely to become more obvious. Verbal IQ is often greater than performance IQ as the child grows.

Does DiGeorge syndrome cause mental retardation?

Developmental delays and learning difficulties are very commonly associated, although severe intellectual disability (termed mental retardation in the DSM diagnostic system) is rare. Recurrent seizures are common, especially those related to hypocalcemia, and epilepsy may be present in about 5% of patients.

What is the long term outlook for a child with DiGeorge syndrome?

Outlook for DiGeorge syndrome Most children survive into adulthood. As someone with DiGeorge syndrome gets older, some symptoms, such as heart and speech problems, tend to become less of an issue. However, behavioural, learning, and mental health problems can continue to affect their daily life.