Patients with the autosomal dominant “spotted bone disease” osteopoikilosis and the related condition Buschke–Ollendorff syndrome (OMIM #166700) may display features of melorheostosis, and have been shown to have germline loss-of-function mutations in LEMD3, encoding the inner nuclear membrane protein MAN15. This evidence concerns the gene LEMD3 and melorheostosis.