Verheij syndrome

Verheij syndrome is rare condition characterized by ante- and postnatal growth retardation, microcephaly, vertebral anomalies, joint laxity/dislocation, developmental delay, cardiac and renal defects, and dysmorphic features. Overlapping interstitial microdeletions of chromosome 8q24 have been reported from patients of this disease. Recently, PUF60, which encodes a component of the spliceosome, has been discussed as the best candidate gene for the Verheij syndrome phenotype, regarding the cardiac and short stature phenotype.