What is 22q11 Deletion Syndrome / Velocardiofacial Syndrome (VCFS)?
22q11.2 deletion syndrome (also called velocardiofacical syndrome or VCFS) 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
- Differences in facial appearance
- Learning and speech problems
- Feeding problems
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate. About 1 in 4,000 children per year are born with velocardiofacial syndrome. More than 130,000 people in the United States have this syndrome.
Since the first 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 fight infections)
- Endocrine system (controls hormones for normal growth and development)
- Neurological system (control learning, speech, hearing and moods)
Children are born with this condition, but symptoms can change over time. Knowing which body systems are affected will help your doctors give you and your child the best therapeutic interventions.
What Causes Velocardiofacial Syndrome?
Velocardiofacial syndrome happens when there is a missing small piece of chromosome 22, called 22q11.2. The reason this piece of genetic material is missing is not always clear.
Which gene material on this part of chromosome 22 are missing is responsible for causing the features of velocardiofacial syndrome. Genetic testing can confirm the diagnosis:
- Chromosome microarray is the most common test used today
- FISH testing may also be used
In studying some families with velocardiofacial syndrome, scientists have learned that this condition follows an autosomal dominant pattern. This means that one parent with this chromosome change has a 50% chance of passing it to their child. It is estimated that velocardiofacial syndrome is inherited this way in only 10% to 15% of cases. Most of the time, neither of the parents has the syndrome nor carries the defective gene. The cause of the deletion is called "sporadic."
Deletions in this area of chromosome 22 have been associated with other syndromes, including DiGeorge syndrome and one type of OPITZ G/BBB syndrome.
What Are Some Problems Associated with Velocardiofacial Syndrome?
- Long face with prominent upper jaw
- Underdeveloped lower jaw
- Low set ears
- Prominent nose with narrow nasal passages
- Thin upper lip with a down-slanted mouth
- Multiple abnormalities of the heart, including ventricular septal defect (VSD), pulmonary atresia, tetralogy of Fallot, truncus arteriosus, interrupted or right-sided aortic arch and transposition of the great arteries
- Learning disabilities in one or more areas
- Hearing loss
- Speech problems
- Behavior problems, including anxiety, ADHD and depression
What Kinds of Treatment May Be Needed for Velocariofacial Syndrome?
Depending on the presence and severity of various problems, a child with VCFS might need one or more of the following surgeries:
- Heart surgery
- Cleft palate repair
- Jaw or ear surgery
Many systems of the body in addition to the heart may be affected in patients with velocardiofacial syndrome. These children need a multidisciplinary approach to their medical problems. They need a whole team working together to treat each body system.
