Besides sporadic CCMs, 6%–7% of cases are due to autosomal dominant inherited heterozygous loss-of-function germline variants in the CCM1 (KRIT1; OMIM: *604214), CCM2 (*607929), or CCM3 gene (PDCD10; *609118) (Spiegler et al., 2018b). This evidence concerns the gene KRIT1 and cerebrocostomandibular syndrome.