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Velocardiofacial Syndrome

Velocardiofacial syndrome is a genetic condition caused by deletion of a small part of chromosome 22. It causes abnormal heart, facial and immune system development. Our multidisciplinary team is experienced in managing this complex condition.

Overview

Velocardiofacial syndrome (VCFS) is a genetic condition that causes abnormal heart, palate and facial development.  In some children, there may also be abnormal kidney development, immunologic function and parathyroid gland function.  VCFS occurs in 1 in 3,000-4,000 births.

Causes of VCFS

Velocardiofacial syndrome is caused by a deletion of a small portion of chromosome 22 at the q11 region.  There are as many as 45 genes present in this small chromosomal region.  Not all children with VCFS have all of the characteristic traits of the condition.  Which of the characteristics of VCFS your child has likely depends on which genes are missing. 

Most often, the gene deletion that causes VCFS occurs sporadically, or by chance.  In approximately 10% of cases, however, the condition may be inherited.  Any individual with VCFS may pass the chromosomal deletion on to their children.  Genetic testing in any newly diagnosed child with VCFS and the child’s parents is important in helping families understand their risk of having with VCFS in the future.

Characteristic traits

The most common characteristics of velocardiofacial syndrome include cleft lip and palate, conotruncal heart abnormalities (such as tetralogy of Fallot, interrupted aortic arch or ventricular septal defects), genitourinary abnormalities (such as missing or underdeveloped kidneys), hearing loss, low blood calcium levels due to parathyroid gland dysfunction and severe immunologic problems due to abnormal development of the thymus.  Additional common traits include feeding problems, developmental delay, microcephaly (small head size) and psychiatric disorders (such as bipolar disorder and schizophrenia).

Other characteristic facial features of velocardiofacial syndrome include eyelid hooding, small ears, small mouth and chin.

Not all patients with velocardiofacial syndrome will have all of these traits.  In addition, the severity of each abnormality may also vary from patient to patient.  When patients have 22q11 deletion that includes the severe immunologic dysfunction, these children are considered to have DiGeorge Syndrome, a closely related variant of VCFS notable for absence of the thymus.  The thymus is the part of the body responsible for making T-cells, important immune system cells that fight infections.

Diagnosis of VCFS

A diagnosis of velocardiofacial syndrome may first be suspected based on facial appearance, heart abnormalities, the presence of cleft lip and palate or blood test abnormalities.  Blood tests that look at immune cells, parathyroid hormone levels and blood calcium levels help give clues to the diagnosis.  The 22q11 deletion may be confirmed by a specialized test called a fluorescence in-situ hybridization (or FISH) test which is able to detect the abnormal chromosome.  An experienced pediatrician, craniofacial surgeon and geneticist are important care providers in diagnosing the condition and helping to coordinate the care your child will need.

Surgical treatment

Treatment of your child will depend on which features of VCFS are present and how severely your child is affected.  Hormone and endocrine abnormalities will be monitored and treated by your pediatrician and an endocrinologist.  Immunologic problems and T-cell levels are treated by an immunologist.  Surgical treatment may include the following.

  • Cardiac problems: A pediatric cardiologist and a cardiac surgeon will evaluate the extent of any heart abnormalities in your child.  If severe enough, heart abnormalities may require corrective surgery early in life.
  • Cleft lip: Children with velocardiofacial syndrome may have a cleft lip only, a cleft palate only or both.  A craniofacial surgeon will help coordinate your child’s cleft care.  Generally, if your child has a cleft lip and is healthy enough for surgery, cleft lip repair will be done at 3 months of age. The lip repair is usually done as an outpatient, meaning that your child will be able to go home on the day of surgery.
  • Cleft palate:  If your child has a cleft palate, this will be repaired when your child is approximately 1 year old.  This surgery generally requires an overnight hospital stay.  Depending on the extent of the palate cleft, your child may also require a bone graft to fill in the gap in the gum line and allow your child’s permanent teeth to grow in.   Bone graft surgery will be done sometime between 6-8 years of age.

During the course of childhood and adolescence, your child will be followed by our craniofacial team to monitor growth and speech development so that we may identify and treat any additional problems that may arise.