Twelve distinct heterozygous missense substitutions and one in-frame insertion in the BTB domain of KCTD1 have been reported to cause the craniofacial condition scalp-ear-nipple (SEN) syndrome (figure 1B–D).19–21 Here, we report two de novo missense substitutions in the KCTD15 BTB domain that associate with a distinct frontonasal dysplasia as well as cutis aplasia or sparse hair reminiscent of the phenotypes observed in SEN. The gene discussed is KCTD15; the disease is frontonasal dysplasia.