Mutations in FLNA underlie a wide spectrum of human disease phenotypes broadly termed the filaminopathies that include periventricular nodular heterotopia (PVNH), the otopalatodigital spectrum disorders (OPDSD) which includes Melnick-Needles Syndrome (MNS) and frontometaphyseal dysplasia (FMD) as well as X-linked cardiac valvular dystrophy (XCVD), among others. The gene discussed is FLNA; the disease is frontometaphyseal dysplasia.