Rapp-Hodgkin syndrome and SHFM1 patients: Delineating the p63-Dlx5/Dlx6 pathway

► The p63, Dlx5 and Dlx6 transcription factors share a common functional pathway. ► p63-Dlx5/Dlx6 pathway dysregulation responsible for craniofacial and SHFM. ► Patient with deletion on chromosome 7q21.13-q21.3, including DLX5 and DLX6, and SHFM. ► Patient with a heterozygous missense mutation in TP63 and ectodermal dysplasia. ► Different diagnostic strategies to patients with SHFM and/or ectodermal dysplasia.