# Handbook of Genetic Counseling/Velo-Cardio-Facial Syndrome (VCF)

Velo-Cardio-Facial Syndrome (VCF)

## Introduction

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## What is VCF?

* VCF is an alternate name used in past literature for the condition currently referred to as 22q11 Deletion Syndrome.
* A highly variable syndrome of associated anomalies including congenital heart disease, dysmorphic features, palate anomalies, and some degree of learning disabilities or mental retardation
* Children with VCF often have feeding problems and speech problems

## Etiology and Natural History

* VCF occurs in about 1/4000 live births
* About 90% of people with VCF have a deletion at 22q11.2
* Most cases are a result of a new mutation
* In 10-20% of cases one parent also has a deletion and VCF phenotype

## Recurrence Risk

* Children of those with VCF have a 50% chance of inheriting the deletion
* Parents of a child with a new mutation have a very low risk of having another child with the mutation

## Clinical Features

* Heart Defects
** Congenital heart disease occurs in about 74% of patients
** These defects are generally conotruncal defects
* Tetrology of Fallot - 22%
* Interrupted Aortic Arch - 15%
* Ventral Septal Defect - 13%
* Truncus Arteriosus - 7%
* Other Defect - 17%
* Palate
** Palatal Defects occur in 69% of patients
** Velopharyngeal incompetence (VPI) is the most common defect (27%)
* Disorder of the velopharyngeal valve which is required for normal speech
* Can lead to hypernasal speech, nasal air emission, or other speech problems
** Submucosal and overt cleft palate are also common
* Feeding
** 30% of patients have feeding problems
** nasal regurgitation is the most common problem
** many feeding problems are a result of the palate defects
* Thymus
** Many patients (specifically those with DiGeorge sequence have a dysplastic or absent thymus)
** This results in a decrease in T-cells leading to decreased immune response
** Absent thymus can also cause hypocalcemia which may lead to seizures
* Dysmorphology
** A variety of dysmorphic features are associated with VCF
* Microcephaly
* Narrow palpebral fissures
* Wide nasal root
* Bulbous nasal tip
* Thin upper lip
* Micrognathia
* Short stature
* Eye and ear abnormalities
* Neurological Defects
** Most patients have some degree of learning disabilities or mental retardation
** Intelligence generally in low-normal range
** Often have language difficulties
* Specifically with reading comprehension and expressive language
* Other associations
** Kidneys: may be polycystic or dysplastic
** Growth: may be smaller in some cases due to lack of growth hormone
** Rheumatoid Arthritis: more frequent than general population

## Molecular Testing

* Chromosomal region is called DGCR
* FISH analysis can be used to identify a deletion on chromosome 22
* Chromosome analysis should be run at the same time in order to locate the occasional disruption caused by a translocation of part of 22

## Management

* Monitor heart function
** Repair defects if necessary
* Evaluate palate
** Intervention for feeding problems
** Repair of palate if necessary
* Monitor blood calcium levels
* Renal ultrasound to check kidneys
* Monitor lymphocytes
** Prevent use of live virus vaccines in patients with reduced immune response
* Provide speech therapy early in development
* Provide early intervention for school

## Psychosocial Issues

* Concern over what problems to anticipate with VCF
* Parents may feel guilt or anger overdiagnosis
* Confusion if mutation not found
* Self-esteem issues for children with VCF due to learning disabilities
* Social stigma due to speech difficulties

## Resources

* "Faces of Sunshine: The 22q11.2 Deletion" Ed. Donna McDonald-McGinn, Brenda Finucane and Elaine Zackai. 2000.

## References

* GeneClinics: 22q11 Deletion Syndrome
* Rommel, N., Vantrappen, G., Swillen, A., Devriendt, K., Feenstra, L., and Fryns, J.P. "Retrospective Analysis of Feeding and Speech Disorders in 50 Patients with Velo-Cardio-Facial Syndrome" Genetic Counseling. 10.1: 71-78, 1999
* Saal, Howard. Chapter 4: The Genetics Evaluation and Common Craniofacial Syndromes
* Cleft Palate and Craniofacial Anomalies: The Effects on Speech and Resonance Chapter 2: "Velopharyngeal Dysfunction (VPD) and Resonance Disorders" .

## Notes

The information in this outline was last updated in 2002.