BAMS (Bosma Arhinia Microphthalmia Syndrome) is characterized by anomalies of the nose, eye defects (high risk of coloboma and cataract) and delayed puberty (hypogonadotropic hypogonadism) [5]; this syndrome is caused by the presence of SMCHD1 gene variants on chromosome 18. Here, SMCHD1 is linked to hypogonadotropic hypogonadism.