FGFR3 and thanatophoric dysplasia: For example, dysregulation of FGFR3 leads to Thanatophoric dysplasia, a fatal form of chondrodysplastic dwarfism, characterized by temporal lobe enlargement, abnormal sulci, and hippocampal dysplasia, resulting in cognitive impairments and reduced synaptic plasticity in both patients and mouse models (Hevner, 2005).