Velocardiofacial syndrome
Overview
An inherited syndrome of cardiac defects and craniofacial anomalies.
Symptoms
* Cyanosis * Heart murmur * Hypospadias * Dysmorphism * Hypernasal speech * Learning disability * Intellectual impairment * Low IQ * Psychiatric disorders * Short stature * Conductive hearing loss * Cleft palate * External ear abnormalities * Cleft of secondary palate * Velopharyngeal incompetence * Small adenoids * Absent adenoids * Prominent nose * Squared nasal root * Narrow nostril * Narrow space between eyelids * Lots of hair on head * Deficient malar area * Long face * Retruded mandible * Chin deficiency * Small head * Slender limbs * Hypotonic limbs * Hyperextensible hands * Hyperextensible fingers * Cardiac defects * Ventricular septal defect * Right aortic arch defect * Tetralogy of Fallot * Aberrant left subclavian artery * Infant reduced muscle tone * Neonatal hypocalcemia * Delayed speech development * Language impairment * Hypernasal speech * Chronic schizophrenia * Paranoid delusions * Small external ear * Wide nose base * Long philtrum * Thin upper lip * Anal abnormalities * Small tonsils
Causes
* Most patients with VCFS have a deletion of the long arm of chromosome 22. About 10% of patients inherit this deletion from a parent, and the rest have it as the result of a new mutation. * Abnormal exchange between chromosome 22s during meiosis is the predominant mechanism for this deletion. * Patients have a 50% chance of passing VCFS on to each offspring.
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.