What Is Velocardiofacial Syndrome?

Velocardiofacial syndrome is a genetic disorder that appears at birth and causes many health problems, ranging from palate openings to heart defects. The severity of symptoms varies from child to child. You may also hear this syndrome called 22q11.2 deletion syndrome, DiGeorge syndrome, Shprintzen syndrome, or conotruncal anomaly face syndrome. According to Medline Plus, VCFS affects an estimated 1 in every 4,000 people. However, many physicians and researchers suspect it's underdiagnosed because of the number and variability of its features.

Your chromosomes contain hundreds of genes, and each cell of your body holds 46 chromosomes. Those diagnosed with VCFS are usually missing a small part of chromosome 22, located at a region called 22q11.2. This deletion means they lack about 30 genes. Currently, only two genes — COMT AND TBX1 — are connected with VCFS. The rest have yet to be identified.

VCFS is considered an autosomal dominant disorder, which means only one parent needs to have the gene deletion to pass it to their child. If a parent has VCFS, there is a 50 percent chance their child will have it, too. However, Medline Plus reports that a child inherits VCFS in only 10 percent of cases. In most cases, the cause of the deletion remains unknown.

Even though VCFS affects a small number of genes, researchers and physicians connect at least 30 different health issues to the 22q11.2 deletion. Though none of these issues occur in all cases, the most common features associated with VCFS include:

• Palatal differences, such as cleft palate
• Heart defects
• Problems fighting infection
• Low calcium levels
• Differences in the way kidneys are formed or work
• Characteristic facial appearances, such as an elongated face, almond-shaped eyes, broad nose, and small ears
• Developmental delays, such as learning disabilities

Other symptoms might include:

• Eye problems
• Feeding problems
• Middle-ear infections
• Weak muscles
• Differences in the spine, such as scoliosis
• Bony abnormalities in the neck or upper back
• Tapered fingers
• Psychiatric illness

Diagnosis usually occurs based on a clinical examination and the presence of the symptoms listed above. Sometimes a physician uses a specific blood test called FISH (fluorescence in situ hybridization) to look for the gene deletion in chromosome 22q11.2.

Because VCFS is a genetic disorder, healthcare providers treat the syndrome by managing the symptoms. So the type of treatment your child needs will depend on the way VCFS presents. For example, if your child has a cleft palate, a team of specialists will perform cleft palate surgery to rebuild the roof of the mouth. Similarly, surgical interventions exist for children with heart defects or nasal speech. Medications, supplements, hormone replacement, occupational therapy, and physical therapy might all play a part in managing your child's syndrome.

The outlook for velocardiofacial syndrome depends on the severity of a person's symptoms, and — honestly — some of these conditions are life-threatening. However, with today's treatment options and ongoing support from family, friends, and a medical team, many diagnosed with VCFS live high-functioning and fulfilling lives.

This article is intended to promote understanding of and knowledge about general oral health topics. It is not intended to be a substitute for professional advice, diagnosis or treatment. Always seek the advice of your dentist or other qualified healthcare provider with any questions you may have regarding a medical condition or treatment.