Apparently, the first detection of CPHD phenotype in a patient with FGFR1 variant was made by Vermeulen et al. 2002 who discovered a microdeletion in 8p.11.2 region of the FGFR1 gene in a patient with congenital spherocytosis, minor facial deformities, crumpled ears, micrognathia, anosmia, GHD and hypogonadotropic hypogonadism [18]. Here, FGFR1 is linked to Micrognathia.