Overview of Velocardiofacial Syndrome
Velocardiofacial syndrome, DiGeorge syndrome, Shprintzen syndrome, 22q11 syndrome, deletion syndrome, conotruncal anomaly face syndrome, strong syndrome, Catch-22 syndrome and 22q11.2 microdeletion syndrome are all names used to describe the same underlying condition. As suggested by the many different names and that these were previously thought to be separate conditions, the way this condition affects individual children is very variable. The underlying cause is a small missing portion of a chromosome, one of the packages of DNA in our cells.
As a result of this altered chromosome, patients with velocardiofacial syndrome are at risk of developing several problems, including:
- Heart defects at birth
- Cleft palate
- Difficulty with feeding, speech and learning
- A lowered immune system
- Reduced hearing
- Difficulty maintaining the right amount of calcium in the blood
- Altered facial features, which are generally fairly subtle
A multidisciplinary approach from birth to adulthood like the one we offer at Children’s Medical Center is essential to providing the best opportunities for patients with velocardiofacial syndrome. As the condition is so varied in the way it affects children, treatment is individualized with regular assessments of the different aspects of the medical condition itself but also assessing and providing services and support to optimize speech development and to ensure the best learning environment for the child.
Signs & Test
Diagnosis is made by a combination of the clinical assessment and a lab test, known as a “FISH 22.” This test looks specifically for the missing genes on chromosome 22 and can confirm the presence of the missing genes. What it can’t predict is the how those missing genes will affect the child.
Signs to look for in this condition are heart defects at birth or problems with the immune system together with a cleft palate. The other features of the condition can also be clues, but if you have any concerns that your child has velocardiofacial syndrome, you should seek medical advice so that the diagnosis can be confirmed and any other parts of the condition that you may have not noticed can be addressed.
Treatment & Care
There is no cure for velocardiofacial syndrome, and treatment involves addressing the problems that an individual faces as a result of the condition. Treatment that may be necessary at birth or shortly after can include surgery to correct heart defects, and assistance with feeding, since special bottles or nipples may need to be used.
Other treatments will be considered and planned depending on how the child is affected. Hormone supplements may be necessary to keep calcium at a good level. The cleft palate should be repaired in order to help with speech development, although speech therapy should be expected, and further speech surgery may be necessary. Hearing loss due to fluid build up behind the eardrum is fairly common, so this should be checked regularly and may require ventilation tubes so that the fluid can drain out across the eardrum. Any immune problems should also be treated as necessary.
Ongoing care from infancy to adulthood is important for a complex syndrome like velocardiofacial syndrome. We recommend that a child with this syndrome is cared for in the context of a multidisciplinary team like we have here at Children’s, so that there is regular in-house review by the multiple health care professionals that will be required as the child grows.