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Velocardiofacial syndrome, or VCFS, is a complex syndrome that has been associated with more than 30 different characteristics, including defects of the palate, heart defects, learning disabilities and distinct facial features. The severity of VCFS and the characteristics that appear vary widely between individuals. It's inherited in an autosomal dominant fashion, meaning if one parent has the syndrome, each child has a 50 percent chance of inheriting it. The name comes from the Latin words velum , meaning palate, cardia , meaning heart, and facies , meaning face. The condition is also known as Shprintzen syndrome, DiGeorge syndrome or 22q11 Deletion syndrome. Because symptoms vary from case to case, it's important for children with VCFS to be evaluated by a knowledgeable team of specialists so nothing is overlooked.
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Velocardiofacial Syndrome (VCFS) / 22q11 Deletion Syndrome
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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Velocardiofacial Syndrome (VCFS)
What is 22q The 22q In children with this syndrome, a tiny piece of chromosome 22 is missing. This can cause many health problems. These problems may range from heart defects and developmental delays to seizures.
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