Velocardiofacial Syndrome

Signs and Symptoms

Velocardiofacial syndrome (VCFS) -- also known as Shprintzen syndrome, DiGeorge syndrome or 22q11 Deletion -- is a complex syndrome generally involving palatal (roof of the mouth) defects, heart defects, learning disabilities, depression of the immune system and distinct facial features. It has been associated with over 30 different characteristics. The severity of VCFS varies widely, and the syndrome is autosomal dominant, which means that an individual with the syndrome has a one in two chance of passing it on to their child.

Diagnosis

Although genetic testing is available for VCFS, it usually is diagnosed by physical examination at birth. VCFS can exhibit different characteristics in different children, and therefore it is important that a knowledgeable team of specialists evaluate a child so that nothing is overlooked.

Shortly after birth, the child should be seen by a nurse from the Craniofacial Center, who will make sure he or she is able to adequately feed and breathe since swallowing problems are common in babies with VCFS.

Within the first two months of life, the infant should be seen for a full craniofacial team evaluation so that appropriate referrals can be made to treat the child's unique needs. Heart defects should be diagnosed and treated by an experienced pediatric cardiologist. Immune deficiencies should be diagnosed and treated by an experienced pediatric endocrinologist.

VCFS should be diagnosed and treated by an experienced team of experts recognized by the American Cleft Palate-Craniofacial Association, like the Center for Craniofacial Anomalies at UCSF.

Treatment

Children with VCFS can have a range of characteristics, which will dictate what treatment is required. The cleft palate is usually repaired when the infant is around 10 months old or when he or she is starting to make sounds of speech. Palate surgery often takes about two or three hours, with the infant staying in the hospital one or two nights. Some children with VCFS experience speech difficulties even when the palate looks normal. In addition, orthodontic treatment may be necessary.

If there is evidence of developmental delay, the child should be referred to an infant stimulation program to receive thorough developmental testing and appropriate interventions. In California, parents should contact their local Regional Center. Such programs are federally mandated and are available to all eligible children regardless of income.

A child with VCFS may encounter social and emotional challenges unique to this condition. Support organizations and resources are available for children and their families.