Velofacial hypoplasia (Sedlackova syndrome): a variant of velocardiofacial (Shprintzen) syndrome and part of the phenotypical spectrum of del 22q11.2

In 1955, a pattern of velar hypoplasia causing hypernasal speech and associated facial dysmorphism was observed in 26 children of Czech origin. Further cases with submucous cleft and/or cardiac anomalies were described. In 1978 velocardiofacial syndrome (VCFS) was reported, a condition very similar to velofacial hypoplasia (Sedlackova syndrome) apart from overt clefts instead of velar hypoplasia. In 1990 it was suggested that both syndromes might be variants of the same clinical entity. To test this hypothesis we performed fluorescence in situ hybridisation using the DiCeorge/VCFS region specific probe D22S75 on 20 patients originally classified as Sedlackova syndrome as well as molecular investigations for a subset of these patients. A 22q11.2 deletion was found in 16/20 patients. Thus, our results confirm the aforementioned hypothesis and expand the long list of clinical diagnoses associated with del 22q11.2. Conclusion Velofacial hypoplasia (Sedlackova syndrome) and velocardiofacial (Shprintzen) syndrome have a corresponding phenotype and are both associated with del 22q11.2.