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Velocardiofacial Syndrome

Synonyms

• Shprintzen Syndrome
• Conotruncal Anomaly Face Syndrome
• Craniofacial Syndrome

Disorder Subdivisions

• None

General Discussion

Velocardiofacial syndrome, (VCFS), a rare genetic disorder, is characterized by abnormalities of the head and facial (craniofacial) area, heart defects that are present at birth (congenital heart defects), diminished muscle tone (hyptonia), mild small stature, slight delays in the acquisition of skills requiring the coordination of mental and muscular activities (psychomotor retardation), and learning disabilities. Some of those affected also develop psychiatric problems.

The syndrome is associated with many different features, and not all will be present in every case. Cleft palate (an opening in the roof of the mouth) and characteristic facial features are among the most common features found with this syndrome.

The heart defect most often associated with velocardiofacial syndrome is an abnormal opening in the fibrous partition (septum) that separates the heart's two lower chambers (ventricular septal defect). Additional symptoms and findings often associated with the disorder may include eye (ocular) defects such as clouding of the lenses of the eyes (cataracts) and/or abnormalities of blood vessels in the nerve-rich membranes lining the eyes (tortuous retinal vessels). Psychiatric problems may vary as well, from moderate behavioral change to severe bipolar mood swings or schizophrenia. The range and severity of symptoms vary greatly from case to case.

Velocardiofacial syndrome is inherited as an autosomal dominant genetic trait and is sometimes known as chromosome 22q11 deletion spectrum because it is associated with multiple identifying features known to occur as a result of a deletion of genetic material on chromosome 22. This syndrome is also associated with other names (see synonyms).

Related Velocardiofacial Syndrome