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Velocardiofacial Syndrome

Written by:
Rosalie Goldberg, M.S. C.G.C.
Genetic Counselor
Human Genetics Program,
Family Core Velo-Cardio-Facial Syndrome Institute,
Montefiore Medical Center,
Albert Einstein College of Medicine

Posted: May 9,1997

Velo-cardio-facial syndrome (VCFS) is a genetic condition commonly associated with cleft palate, cardiac malformations, severe speech problems and learning disabilities. VCFS, like many genetic disorders, may arise spontaneously as a new mutation, or may be inherited from an affected parent. The mutation causing VCFS is a deletion of genetic material on one of the two chromosome 22's. If the mutation is present in the parent, then that parent has a 50% chance of passing on the deletion to his or her children. This is called autosomal dominant inheritance. Ninety percent of patients with the 22q11.2 deletion have not inherited the deletion from either parent; in fact, the mutation is a new occurrence. We do not yet know how or why these spontaneous mutations occur. A laboratory test is available to look for 22q11 deletions. The test will be described below.

My first exposure to children with this condition was in the late seventies in New York City, while working as the genetic counselor at the Center for Craniofacial Disorders at Montefiore Medical Center in the Bronx. The team at the Center evaluated a series of patients with cleft palate who also had congenital heart disease and a subtle but characteristic facial appearance. Robert Shprintzen, PhD. identified the syndrome and coined the name velo-cardio-facial syndrome to describe the characteristic phenotype (the observable physical and behavioral characteristics). Others and I have studied facets of VCFS for over 20 years. Recently, I was asked to talk about the behavioral aspects of VCFS at the American Society of Human Genetics 1996 Annual Meeting. In preparation for that talk, I re-established contact with seven of the original 12 families whose stories were published in the first VCFS article published in the Cleft Palate Journal (1978): 15, 56-62. The long term follow-up of patients initially evaluated as children and followed into adulthood has led to an appreciation of the variability of the behavioral and phenotypic spectrum of the disorder. Some adults with VCFS have jobs and lead fairly normal lives while others have psychological ups and downs and need more professional support and help from their families.

The face of VCFS has a characteristic although not abnormal appearance. In a young child it is the nose and ears that direct the geneticist, cardiologist, otolaryngologist (ear doctor) or plastic surgeon to think of the syndrome. The diagnosis is suspected in newborns with a combination of congenital heart disease and cleft palate. Most often those youngsters have minor anomalies of the external ears as well as the heart and palate. Feeding problems with nasal regurgitation of milk are common. The most frequent heart problems seen in children with a deletion of chromosome 22q are interrupted aortic arch, truncus arteriosus, tetralogy of Fallot with pulmonary atresia, absent pulmonary valve syndrome, simple tetralogy of Fallot, conotruncal venticular septal defect and any congenital heart defect with absence of the thymus.

The syndrome diagnosis is first made on clinical suspicion and then confirmed through genetic testing. The test of choice is fluorescence in situ hybridization (FISH). FISH is the test used when VCFS or the related disorder DiGeorge (DGS) is suspected. Usually newborns with two or more major congenital malformations such as the combination of congenital heart disease and cleft palate will have a genetic consultation and a chromosome analysis. The test is done in a specialized laboratory and requires a sample of fresh blood. The test is not routine. A negative result does not mean that the child does not have VCFS or the related disorder DiGeorge (DGS). Some patients have smaller deletions which are more difficult to detect. About 15 % of patients with the clinical diagnosis of VCFS or DGS do not have a positive FISH test. It is probable that VCFS and DGS have the same genetic cause.

For additional information, please see:
Genetic Centers, Clinics, and Departments
VCFS Educational Foundation

This article was reviewed prior to publication by:

Elizabeth Tong, MS, RN, CPNP, FAAN
Clinical Nurse Specialist, Pediatric Cardiology
The Medical Center at the University of California, San Francisco

Parent Reviewer:
Maureen McGettigan, LICSW
Social Worker
Green Harbor, MA

Your feedback is very important! Please e-mail us with any questions or comments about this article.

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