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Velocardiofacial Syndrome

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velocardiofacial-syndrome

VCFS

Velocardiofacial syndrome (VCFS) is a genetic condition that is often times hereditary. It is a condition that affects numerous parts of the body. VCFS occurs when there is a tiny piece of chromosome 22 is missing. It is passed on to the child by a parent who carries the gene The meaning of the name velocardiofacial syndrome comes from Latin words- “velum” which means palate, “cardia” which means heart, and “facies,” which has to do with the face.

Occasionally VCFS can happen when the females egg is fertilized at conception. Or it can develop during growth in the mother's uterus.

Symptoms

Every child who has Velocardiofacial syndrome will not experience every symptom. Some have a lesser degree other children have a more severe form. Some of the symptoms are :

  • heart problems
  • Seizures
  • Oral problems which can include- cleft palate -which is an opening in the roof of the mouth, missing teeth.
  • immune system problems which make it difficult for the body to fight infections, They may have more frequent upper respiratory infections.
  • weak muscles- where the child cannot stand or walk
  • Low calcium levels
  • spine problems such as curvature of the spine also known as scoliosis,
  • speech problems where a child may be slow speaking or will not speak at all. This is known as developmently delayed.Some children may have a limited vocabulary, other children will still not be vocal even at school age.
  • feeding problems -a child may have problems swallowing food and the child may need a gastronomy tube inserted to aide in feeding. Feeding problems may start in infancy as failure to thrive. They may develop GERD.

Causes

Most children who have been diagnosed with VCFS are found to be missing part of chromosome 22.Chromosomes are threadlike structures which are found in all the cells of the body. Each chromosome contains hundreds of genes. A human cell normally contains 46 chromosomes which means there are 23 genes inerited from each parent.

A parent who carries the gene can pass this on to their children. Part vs are urged to e tested for the disorder.


Diagnosis

a test called FISH or Flouresence in Situ Hybridization this is a pathology blood test which when ordered looks for a deletion in chromosome 22q11.2. The FISH test is specifically searches for genes that are deleted.

If chromosome deletion is detected in a child, both of the child's parents are offered a FISH test to find out if the deletion is inherited. Families with the deletion are inherited from one of the parents. Any parent who has the deletion has a 50% chance of passing it on to their children.

Chromosomal microarray. this is another blood test. it is similar to the FISH test.This looks at many areas across all the chromosomes, including chromosome 22. This test helps to find a missing piece of the chromosome and the location of the deletion.

X-Ray- Doing an xray looks at the organs of the

Treatment

There is no cure for VCFS. Many of its related health problems can be treated. Treatment will depend on your child’s symptoms, age, and general health. It will also depend on how severe the condition is. Treatment is aimed at managing the symptoms and preventing the onset of health complications.

The child will have numerous specialists involved with the care. Such as:neurologist,cardiology. and pediatrician.

Life Expectancy

Life expectancy and prognosis is dependent on the number of body systems that are affected and the severity of the problems involved.

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