22q11.2 Deletion

Additional media:

22q11.2 deletion has been called by many names, reflecting the constellation of clinical manifestations that have been identified over time. The majority of 22q11.2 deletion syndrome patients have congenital heart defects, most often conotruncal abnormalities (tetralogy of Fallot, interrupted aortic arch, ventricular septal defect (VSD), vascular ring, and  truncus arteriosus) and palatal defects, including submucosal cleft palate and velopharyngeal dysfunction (VPD).  VPD (also referred to as velopharyngeal insufficiency, or VPI) is usually manifest as abnormal nasal air escape and hypernasal speech.

For more information on 22q11.2 Deletion Syndrome, visit: http://www.nationwidechildrens.org/22q11-deletion-syndrome.