Velocardiofacial syndrome, or 22q11 deletion syndrome, is known by many names, including Shprintzen syndrome, craniofacial syndrome, DiGeorge syndrome, or conotruncal anomaly face syndrome.
The name velocardiofacial syndrome comes from the Latin words “velum” meaning palate, “cardia” meaning heart, and “facies,” having to do with the face.
VCFS includes many common features: cleft palate, heart defects and a characteristic facial appearance. Other common findings include minor learning problems and speech and feeding problems.
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate. It is estimated that one in 2,000 to 5,000 children per year are born with velocardiofacial syndrome, and more than 130,000 individuals in the United States have this syndrome.
Since the initial description of this syndrome, many other parts of the body have been reported to be involved. Many of the affected body systems are:
- Immune system (helps to fight off infections)
- Endocrine system (the series of glands that secrete important hormones for normal growth and development)
- Neurological system (brain control centers for learning, speech and hearing, and moods)
The Velocardiofacial Syndrome Education Foundation Center for the Diagnosis, Treatment and Study of VCF Syndrome currently lists 185 reported findings in patients with velocardiofacial syndrome. This comprehensive list serves as a guide for evaluating each individual to determine which areas may be affected.
Research shows that children with velocardiofacial syndrome are born with these features and that they do not progress over time. It is important to realize none of these occurs 100 percent of the time. Knowing which body systems are affected will help your doctors provide you and your child with the most complete therapeutic interventions.