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Velocardiofacial syndrome, or 22q11 deletion syndrome, is known by many names, including Shprintzen syndrome, craniofacial syndrome, DiGeorge syndrome, or conotruncal anomaly face syndrome. VCFS includes many common features: cleft palate, heart defects and a characteristic facial appearance. Other common findings include minor learning problems and speech and feeding problems. Velocardiofacial syndrome is the most common syndrome associated with a cleft palate. It is estimated that one in 2, to 5, children per year are born with velocardiofacial syndrome, and more than , individuals in the United States have this syndrome. Since the initial description of this syndrome, many other parts of the body have been reported to be involved.
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Velocardiofacial Syndrome (VCFS)
22q Deletion Syndrome | Diagnosis & Treatment | Boston Children's Hospital
Velo-cardio-facial syndrome is one of the names that has been attached to one of the most common multiple anomaly syndromes in humans. Velo-cardio-facial syndrome has an expansive phenotype with more than clinical features described that involve essentially every organ and system. The syndrome has drawn considerable attention because a number of common psychiatric illnesses are phenotypic features including attention deficit disorder, schizophrenia, and bipolar disorder. The expression is highly variable with some individuals being essentially normal at the mildest end of the spectrum, and the most severe cases having life-threatening and life-impairing problems. The syndrome is caused by a microdeletion from chromosome 22 at the q The 3 megabase deletion encompasses a region containing 40 genes. The syndrome has a population prevalence of approximately , in the U.
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Velo-Cardio-Facial Syndrome: 30 Years of Study
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DiGeorge syndrome , also known as 22q DiGeorge syndrome is typically due to the deletion of 30 to 40 genes in the middle of chromosome 22 at a location known as 22q Although there is no cure, treatment can improve symptoms.