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Velo-cardio-facial syndrome or chromosome deletion 22q11.2, is the most common chromosomal microdeletia, estimated at approx. 1:4000 people. The syndrome is a heterogeneous entity that includes multiple birth defects: cardiac, facial, gastrointestinal, renal, thymic hypoplasia, palate abnormalities, variable cognitive retardation, behavioral phenotypes, and psychiatric disorders. Management involves a multidisciplinary approach by a team of specialists: geneticist, cardiologist, surgeon, neurologist, immunologist, endocrinologist, psychiatrist. |
