Even if few features are typical for some disorders (Table 1), characteristic hand anomalies in CANT1, IMPAD1, CHSY1, and TGDS-related conditions or amelogenesis imperfecta in dysplasia due to mutations in SLC10A7, for example, may help clinicians to orientate the clinical diagnosis. The gene discussed is BPNT2; the disease is amelogenesis imperfecta.