A knock out study showed that a deficient proteinTKS4 encoded by the SH3PXD2B gene presents similarmorphological features such as craniofacial, musculoskeletal,cardiovascular, and ocular anomalies (Iqbal et al., 2010).A literature review by Durand B. et al. in 2020 showed that40 patients manifesting clinical features similar to FTHS havebeen reported worldwide, half of them were carrying mutationsin SH3PXD2B (Durand et al., 2020). This evidence concerns the gene SH3PXD2B and Frank-Ter Haar syndrome.