The variant is very rare and falls in a transmembrane domain which is not involved in achondroplasia, craniosynostosis, or other skeletal FGFR3-associated dysplasia, although in some of these dysplasias Chiari malformations, of either type 1 or 2, are reported (Awad 2014). The gene discussed is FGFR3; the disease is Chiari malformation.