A similar presentation described as a ‘midline frontal cyst’, accompanied by cutis aplasia of the scalp and congenital heart disease, was reported in a four-generation family in 2007,43 however, it has not been possible to establish contact to test whether a KCTD15 variant is present, and we did not find other convincing phenotypic matches in the literature. The gene discussed is KCTD15; the disease is cyst.