Pediatric Cleft and Craniofacial Center

What is 22q11.2 Deletion Syndrome?

22q11.2 Deletion Syndrome (also known as Velocardiofacial Syndrome) describes a variety of conditions that occur as the result of a missing segment of a specific chromosome (chromosome 22). This is a very rare occurrence - approximately 1 in 2,000-5,000 children are born with 22q deletions.

22q11.2 Deletion Syndrome is characterized by various physical characteristics and health conditions. These characteristics vary widely among individuals with this syndrome, but often include:

Causes of 22q11.2 Deletion Syndrome

There are no known causes or risk factors for 22q11.2 Deletion Syndrome. It can be an inherited condition - a person with the condition has a 50% chance of passing this down to his or her children. More commonly though, it is a completely random occurrence.

Health Risks of 22q11.2 Deletion Syndrome

Besides the physical characteristics, other health risks are also associated with 22q11.2 Deletion Syndrome. As many as 30 different problems have been associated with this syndrome. Conditions and their severity vary from patient to patient. These conditions can include:

Treatment of 22q11.2 Deletion Syndrome

Due to the broad spectrum of conditions associated with 22q11.2 Deletion Syndrome, we recommend that your child see the team of specialists associated with the Cleft and Craniofacial Anomalies Center for a complete evaluation. This team of specialists meets weekly as an independent branch of the Pediatric Cleft and Craniofacial Anomalies Team, focused on the specific needs of children with this syndrome. After a complete evaluation, we will work with you, your child and your pediatrician to develop a treatment plan especially tailored to your child. We find that this team approach provides the best, most complete care for each patient.

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To contact the Center or a team member, please call 585-273-FACE.

 

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