Shprintzen Syndrome goes by different names like velocardio-facial syndrome, DiGeorge syndrome, and 22q11.2 deletion syndrome. This medical condition is a rare inherited syndrome of cardiac deficiencies and craniofacial abnormalities.

Genetic testing is widely available for the clinical and prenatal testing of Shprintzen syndrome. Fluorescence in situ hybridization (FISH) testing has the capacity to detect submicroscopic deletion of chromosome 22.

Treatment for Shprintzen syndrome depends on the symptoms presented because there is still no genetic treatment available to cure the syndrome.

The manifestations of Shprintzen syndrome generally differ even within the members of the same family. Usually, it affects many parts of the body. However, there are still characteristic symptoms that may suggest the presence of the syndrome. This includes congenital heart defects, an opening in the roof of the mouth (oftentimes cleft palate but other palate defects may exist), autism or other learning insufficiencies, facial feature discrepancies, periodic viral or fungal infections due to immune system problems, weak muscles, short stature, spine curvature, and tapered fingers. Some cases may also be prone to kidney abnormalities, noteworthy feeding difficulties and an increased possibility of developing mental illnesses.

The cause of Shprintzen syndrome is unknown. It is a known fact that it is a genetic problem and that most children diagnosed with this syndrome are missing a small part of chromosome 22. This is the reason why there valid theories that the syndrome is caused by a deletion of a small part of chromosome 22.

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