What Is Velocardiofacial Syndrome?

Velocardiofacial syndrome (VCFS) is a genetic disorder most commonly associated with the development of a cleft palate in children. VCFS can also impact the development and functioning of the parathyroid gland, thymus gland and heart.

VCFS arises during fetal development and manifests with a range of symptoms that vary in their severity among children.

This disorder has been linked to a lack of genes produced by chromosome 22 in the human body. Other syndromes such as DiGeorge syndrome and Shprintzen-Goldberg syndrome have also been linked to the deletion of these genes from chromosome 22.

As the role chromosome 22 plays in these syndromes become better understood, DiGeorge, Shprintzen-Goldberg syndrome and velocardiofacial syndromes are now collectively referred to as 22q11.2 deletion syndrome.

What Causes Velocardiofacial Syndrome?

VCFS occurs when a portion of chromosome 22 becomes missing in a developing fetus. A chromosome is part of a DNA molecule found in the nucleus of most living cells. Each fetus acquires two copies of chromosome 22, which are inherited from each parent.

Velocardiofacial syndrome arises when a portion of chromosome 22 is deleted. This equates to a missing 30 to 40 genes normally available to a person. The loss of the genes COMT and TBX1 are both associated with VCFS, but not all the genes that cause this syndrome have been identified.

The specific roles of these genes in a child’s development is still not completely understood, but they are identified in a group as the 22q11.2 region of chromosome 22.

These genes can become deleted in the father’s sperm, mother’s egg or during the early stages of fetal development. In rare cases, this deletion can be inherited from a parent also missing genetic information in chromosome 22.

What Are the Symptoms of Velocardiofacial Syndrome?

VCFS can cause congenital defects and disorders in a child in a number of ways, depending on which body organs and structures are affected by the lack of genetic information available.

Cleft palate is a common feature of velocardiofacial syndrome. This can lead to problems with feeding in infants that require immediate care. Heart defects, hypoparathyroidism, thymus gland dysfunction and blood circulation problems may all be present.

Children with VCFS also often experience developmental delays and learning difficulties. Often non-verbal learning disabilities are present in children with VCFS. Communication and social interaction problems such as autism spectrum disorder may also be present. As adults, these individuals are at an increased risk for developing mental health problems such as depression, anxiety and schizophrenia.

What Are the Treatments for Velocardiofacial Syndrome?

Although there is no cure for velocardiofacial syndrome, treatments exist to help correct and manage the different problems arising from the syndrome. Medication and surgical procedures that treat the different disorders that arise from VCFS can be used to help mitigate challenges to a child’s development and to help them function normally in the world.

Cleft palate is often treated with craniofacial surgery. Calcium and vitamin D supplements are used to treat hypoparathyroidism. Mild impairment of the thymus gland function does not typically require care or vaccination different from other children.

When a child’s thymus is severely disrupted or it doesn’t exist, severe and even life-threatening infections can occur. Bone marrow and blood transplants are typically used to treat this condition.

Medical therapies can help manage developmental delays in children with VCFS. Speech therapy, occupational therapy and developmental therapy can all benefit children with velocardiofacial syndrome. Neuropsychological therapies can also be helpful for children who develop conditions like attention deficit/hyperactivity disorder and autism spectrum disorder.