Shprintzen Syndrome

Below you will find more information about Shprintzen Syndrome from Medigest. If you believe that you are suffering from any of the symptoms of Shprintzen Syndrome it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Shprintzen Syndrome and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Shprintzen Syndrome comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

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.

Diagnosis

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

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

Symptoms and Signs

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.

Causes

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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