115. The Doctor Is In! DR. ROBERT SHPRINTZEN

Robert J. Shprintzen is the President and Chairman of the Board for The Virtual Center for Velo-Cardio-Facial Syndrome.  He has not one, not two, not three, but four different syndromes that are named after him. He’s an accomplished professional in the world of genetics, and he’s sharing the story behind the discovery of VCFS on this episode of The Better Call Daddy Show: The Safe Space for Controversy. Do you know your lineage?  What story changed Robert’s perspective on what he was doing as a doctor? Tune in to find out! 

Velo-cardio-facial syndrome (VCFS) was discovered by Robert J. Shprintzen, Ph.D. in 1976 when he recognized a shared pattern of anomalies in clinical findings involving a dozen patients. This put America on the map as the global leader in the treatment of this common genetic multiple anomaly syndrome.

 

VCFS is the most common genetic multiple congenital anomaly disorder in humans. It is caused by a microdeletion of DNA from chromosome 22, typically encompassing approximately 40 genes.

 

VCFS, also known as Shprintzen syndrome, and 22q11.2 Deletion Syndrome among others, is the most common genetic multiple congenital anomaly syndrome and the most common genetic cause of psychosis. About one third of people with VCFS develop psychosis and 1-2% of all patients with schizophrenia have a 22q11.2 microdeletion.

 

VCFS causes congenital heart disease, palate abnormalities and the most significant genetic cause of psychosis. Recent data shows it is the most common multiple anomaly syndrome in humans, occurring in one of every 1000 pregnancies.

 

There are approximately 200,000 people in the United States with VCFS and about 30% of cases are not accurately diagnosed.  This impacts their quality of life and will likely affect long-term outcomes.

 

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