Apart from FSHD2, pathogenic missense variants in SMCHD1 can also cause Bosma Arhinia Microphthalmia Syndrome (BAMS, [OMIM: 603457])21,22, a rare severe developmental disorder, but only when these variants occur in the extended ATPase domain of SMCHD112. The gene discussed is SMCHD1; the disease is arhinia, choanal atresia, and microphthalmia.