Small deletion--large effect

Velocardiofacial syndrome (VCFS) or Shprintzen's syndrome leads to cleft palate (69%), heart defects (74%), and characteristic facial dysmorphies as well as learning difficulties (70-90%). There is phenotypic overlap with DiGeorge syndrome (DGA). In 1992, it was shown that patients with VCFS had a partial 22q11 monosomy. The site and size of the deletion in many VCFS patients do not differ from patients with DGS. For the otolaryngologist, it is important to check for cardiac defects if the characteristic middle ear effects and possibly submucosal cleft palate are present. If a combination of these exist, it is advisable to carry out a genetic examination of the child in order to determine whether VCFS is present or not. This is the only way of providing an early diagnosis of this syndrome.