We previously showed that the pathogenic DUX4‐fl transcript as well as some of the DUX4 targets are produced at a comparable level in cells from FSHD1 or FSHD2 patients but also from patients affected with BAMS, a rare unrelated developmental syndrome, despite the absence of muscle manifestation that is specific to FSHD.12, 13. Here, DUX4 is linked to arhinia, choanal atresia, and microphthalmia.