Typical facies with a prominent nose and retruded mandible, cleft palate, cardiovascular defects, learning disability, retarded mental development, and short stature. Elements of this syndrome are frequently present in the Robin syndrome.
caused by microdeletion on chromosome 22q11.2; associated with multiple congenital anomalies, learning disabilities, behavioral phenotypes including ADHD and anxiety, with schizophrenic risk in adulthood.