Loss-of-function mutations of PTHLH cause brachydactyly type E (Klopocki et al., 2010; Scheffer-Rath et al., 2023), which may include craniofacial dysmorphism (Jamsheer et al., 2016), while PTHLH duplications cause chondrodysplasia (Echaubard et al., 2022; Flöttmann et al., 2016; Gray et al., 2014). The gene discussed is PTHLH; the disease is brachydactyly type E.