The Arc Answers: Velo-cardio-facial or 22q11 deletion syndrome

• Approximately 1 in every 4,000 newborns is diagnosed with VCFS. The incidence increases to 1 in 68 children who are born with heart defects and 1 in every 12-20 children who are born with cleft palate. Some researchers believe that the incidence is higher, as people with very mild symptoms may go undiagnosed.

• People who have historically been diagnosed with DiGeorge syndrome, Velo-cardio-facial syndrome, conotruncal anomaly face syndrome, Opitz G/BBB syndrome, and Cayler cardiofacial syndrome have all been found to have the same genetic deletion on chromosome 22 through genetic testing.

• VCFS is caused by the deletion of approximately 30-40 genes on chromosome 22. In more than 90 percent of children, this occurs randomly during conception for unknown reasons. However, almost 10 percent of children with VCFS inherit the genetic abnormality from a parent with a deletion on chromosome 22. With each pregnancy, there is a 50 percent chance that a person with the 22q11 deletion will pass it on to their child.

• A variety of symptoms have been identified in people with VCFS, although nobody has all of the symptoms. Common physical characteristics include: a long face, pear-shaped nose, small ears, almond-shaped eyes, short stature, cleft palate, and reduced facial animation.
• Behavioral characteristics include: impulsivity and inattention, potentially due to Attention Deficit Hyperactivity Disorder; temper outbursts; the repetition of a particular phrase or gesture; and social withdrawal.
• More than 95 percent of children will also experience developmental delays, especially with respect to speech, motor skills, and learning. Children often have an aptitude for reading and memorization, but may struggle with math and the comprehension of abstract concepts.

• Though each child should be assessed individually, common medical concerns include: low calcium levels, which may resolve with time; feeding problems; hearing loss due to frequent ear infections; congenital heart defects; cleft palate; immune system deficiencies; increased risk for viral or fungal infections; and vascular, renal, and skeletal abnormalities. Adults with VCFS are also at greater risk for developing mental health disorders, including depression, anxiety, schizophrenia, and bipolar, though most people do not develop these disorders.

• Interventions should be targeted and individualized, since the symptoms and their severity differ in each person. However, various therapies, including speech, occupational, and educational, have proven to help many children with VCFS, especially as part of an early intervention plan. With regard to medical care, children and adults may need to be seen by specialists like cardiologists, endocrinologists, and immunologists to determine the best course of treatment, which often includes surgical interventions.

• The International 22Q Deletion Syndrome Foundation: http://www.22q.org/
• National Institutes of Health: http://www.genome.gov/25521139
• Madison’s Foundation – Rare Disease database: http://www.madisonsfoundation.org/index.php/component/option,com_mpower/Itemid,49/diseaseID,592/
• Velo-Cardio-Facial Syndrome Educational Foundation: http://www.vcfsef.org/
• North Carolina: VCFS Support Group: http://www.22q11nc.org/

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