velocardiofacial syndrome a rare autosomal dominant syndrome of cardiac defects and characteristic craniofacial abnormalities including cleft palate, jaw abnormalities, and prominent nose; it is often associated with abnormalities of chromosome 22. Learning disabilities occur often; short stature, slender hyperextensible hands and digits, scoliosis, mental retardation, inguinal hernia, auricular abnormalities, and microcephaly occur less frequently. Some evidence indicates that the defective gene is the same one as in DiGeorge syndrome . Called also Shprintzen or Shprintzen-Goldberg syndrome.
