What is 22q11.2 Deletion Syndrome?

22q11.2 deletion syndrome, also called DiGeorge syndrome, velocardiofacial syndrome, or conotruncal anomaly face syndrome, is a disorder that occurs when an individual is missing a portion of chromosome 22.

Many different symptoms can occur with 22q11.2 deletion syndrome, and most individuals have some but not all of the symptoms. Common features include heart defects, a cleft palate, immune system problems, developmental delays, and unique facial features. Other symptoms may include growth issues; breathing problems; abnormalities of the eyes, kidneys, gastrointestinal tract, and skeletal system; low levels of calcium in the blood; seizures; feeding difficulties; hearing loss; and autoimmune disorders. Learning difficulties, attention deficit hyperactivity disorder (ADHD), and autism spectrum disorders are more common in people with 22q11.2 deletion syndrome. Individuals also have an increased risk of developing mental health disorders, such as anxiety or schizophrenia. The types of symptoms experienced can differ significantly even between family members with 22q11.2 deletion syndrome.

How common is 22q11.2 Deletion Syndrome?

The incidence of 22q11.2 deletion syndrome in the population is 1 in 2,000 to 1 in 7,000 births. In around 10% of families, the deletion is inherited from a parent. Parents of a child with 22q11.2 deletion syndrome may wish to have themselves tested to determine their chances of having other children with the condition.

How is 22q11.2 Deletion Syndrome treated?

There is no cure for 22q11.2 deletion syndrome, and 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.

What is the prognosis for a person with 22q11.2 Deletion Syndrome?

The prognosis for individuals with 22q11.2 deletion syndrome depends on the symptoms that are present. With proper medical care, most individuals with this condition survive into adulthood.


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