We recently published that mutation of the gene encoding Tks4, which is a family member of Tks5, is a cause of the human developmental disorder, Frank-Ter Haar Syndrome (FTHS), which is characterized by craniofacial and other skeletal abnormalities, as well as eye and heart defects [52]. This evidence concerns the gene SH3PXD2A and Dermato-cardio-skeletal syndrome, Borrone type.