Mutations in the X-linked FLNA gene are associated with a range of conditions collectively termed filaminopathies (Wade et al., 2020), encompassing cardiac valvular dysplasia, fronto-metaphyseal dysplasia, periventricular nodular heterotopia, Melnick-Needles syndrome, otopalatodigital syndromes, terminal bone dysplasia, congenital short bowel syndrome, and intestinal pseudo-obstruction (McKusick- Nathans Institute of Genetic Medicine, 2023). The gene discussed is FLNA; the disease is frontometaphyseal dysplasia.