Velocardio-Facial Syndrome

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Author: 
Adoptive Families Association of BC
Source: 
Special Needs Database
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Definition
VCFS is a genetic condition (associated with chromosome 22q11) that can impair almost every bodily function and occurs as often as one in every 2000 births. Although this syndrome is not widely known, it is thought to be second in frequency only to Down’s Syndrome.

It can be known as 22q11 Deletion Syndrome, Velocardio-Facial Syndrome, Shprintzen Syndrome, Di George Syndrome, CATCH-22, 22q minus, Conotruncal Anomalies Face Syndrome, or Sedlackova Syndrome. At first, most of these conditions were thought to be separate, but it has been discovered that they are all caused by the same thing and were instead different manifestations of it.

Causes
The loss of a bit of genetic information in one of the two chromosome 22s, removes a set of essential instructions on how to develop and grow. This happens in the embryonic stage of growth. It can be passed genetically through reproduction but most cases are unexpected mutations.

Characteristics
A staggering array of 185 anomalies are associated with VCFS. While no patient has all the potential complications, some children exhibit as many as 30 or 40.  Problems first appear at birth with:

  • Congenital heart abnormalities
  • Cleft palate
  • Serious feeding problems
  • Serious breathing problems
  • Kidney problems
  • Calcium deficiency low enough to cause seizures

As the child grows, other problems may emerge, including:

  • Failure to thrive
  • Immune disorders
  • Learning disabilities
  • ADHD

During teen years, many of these patients develop psychiatric problems such as bipolar disorder and schizophrenia.

While VCFS and DiGeorge’s are essentially referring to the same disorder, a search for “DiGeorge’s Syndrome” on the Internet will present a broader spectrum of symptoms including:

  • Immune deficiency
  • Recurrent infections
  • Underdeveloped thymus gland
  • Lack of T-cells
  • Congenital heart disease (heart murmur or heart failure)
  • Underdeveloped parathyroid glands
  • Characteristic facial feature (underdeveloped chin, downward slanting eyes, misshapen earlobes)
  • Convulsions

Treatment
There are gestational tests for VCFS, however, more commonly diagnosis happens after birth. Treatments are focused on the anatomical or psychological systems affected.

This resource is by no means intended as a substitute for a doctor's advice or diagnosis. Any concerns you may have with regard to your child's health and development should be discussed with a professional in an appropriate field.

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