115. The Doctor Is In! DR. ROBERT SHPRINTZEN

Published: May 3, 2021, 7:50 p.m.

b'Robert J. Shprintzen is the President and Chairman of\\xa0the Board for\\xa0The Virtual Center for Velo-Cardio-Facial Syndrome. \\xa0He has not one, not two, not three, but four different syndromes that are named after him. He\\u2019s an accomplished professional in the world of genetics, and he\\u2019s 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? \\xa0What story changed Robert\\u2019s perspective on what he was doing as a doctor? Tune in to find out!\\xa0\\nVelo-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.\\n\\xa0\\nVCFS 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. \\n\\xa0\\nVCFS, 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.\\n\\xa0\\nVCFS 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. \\n\\xa0\\nThere are approximately 200,000 people in the United States with VCFS and about 30% of cases are not accurately diagnosed. \\xa0This impacts their quality of life and will likely affect long-term outcomes.\\n\\xa0\\nMe and my daddy love five star reviews you can make our day at ratethispodcast.com/bettercalldaddy'