Velocardiofacial Syndrome

Velocardiofacial Syndrome (VCFS), also known as 22q11.2 deletion syndrome, DiGeorge syndrome, Shprintzen syndrome, or conotruncal anomaly face syndrome, is a genetic disorder that is caused by the deletion of a small piece of chromosome 22. The syndrome is characterized by a wide range of health and developmental issues.

Symptoms and Signs

VCFS is associated with a wide spectrum of symptoms and signs, which can vary greatly in severity and occurrence among individuals. Common features include heart defects, cleft palate, learning disabilities, and characteristic facial features.

Causes

VCFS is caused by a deletion of about 40 genes on one of the individual's two 22nd chromosomes. The deletion occurs near the middle of the chromosome at a location designated q11.2.

Diagnosis

Diagnosis of VCFS is based on clinical features and confirmed by fluorescent in situ hybridization (FISH) or by multiplex ligation-dependent probe amplification (MLPA) to identify the 22q11.2 deletion.

Treatment

Treatment for VCFS is symptomatic and supportive, and may include surgery for congenital heart defects and cleft palate, speech therapy, and educational services.

Prognosis

The prognosis for individuals with VCFS varies depending on the severity of symptoms. With appropriate medical care and support, most individuals with VCFS can lead healthy and productive lives.

See Also

• Chromosome 22
• Genetic Disorders
• Congenital Heart Defects

References

Velocardiofacial Syndrome Resources
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