Recently, another two mutations in the TKS4-encoding gene (in intron 5 and exon 13) have been linked to an FTHS-related phenotype (Figure 4a) called Borrone dermato-cardio-skeletal syndrome (BDCSS), which causes symptoms such as a coarse face, broad forehead, broad nasal bridge, hypertelorism, megalo-cornea, glaucoma, osteopenia, kyphoscoliosis, and mitral valve prolapse [186]. Here, SH3PXD2B is linked to Frank-Ter Haar syndrome.