Exome data analysis have identified an additional disease causing variant (NM_001308175.2: c.280C>G; p.R94G) in the SH3PXD2B gene in the affected individuals of family B. Variants in this gene are responsible for Frank-Ter Haar syndrome (FTHS). This evidence concerns the gene SH3PXD2B and Dermato-cardio-skeletal syndrome, Borrone type.