Velocardiofacial Syndrome

Initially described in the 1960s by Dr. Angelo Di George , velocardial facial syndrome (otherwise known as Di George syndrome or Chromosome 22q11.2 syndrome) is the most common microdeletion syndrome in humans. A 3 Mb deletion of LCR22A-D is the most common deletion present, though other deletions can be seen, with varying phenotypes. Though there are a variety of presentations and phenotypes possible in velocardial facial syndrome, common presenting features include immune deficiency, recurrent infections, hypocalcemia, seizures, CNS anomalies, psychiatric problems, short stature, macro- or microcephaly, intellectual delays, congenital heart disease genitourinary anomalies, and palatal anomalies. Symptoms and phenotype can range from only a few features to severe and life-threatening. A long narrow face with a tubular nose, thin palpebral fissures, and a small mouth are present in greater than 90% of cases.