MNS, an extremely rare skeletal anomaly belonging to one of the otopalatodigital spectrum disorders (OPDSD), is the most severe disease that causes a lethal phenotype in hemizygous males and skeletal dysplasia in heterozygous survivable females since gain‐of‐function mutations in FLNA (Naudion et al., 2016). The gene discussed is FLNA; the disease is skeletal dysplasia.