UFS is an autosomal recessive pathology associated with mutations in the HPSE2 or LRIG2 genes, which are located on chromosomes 10q23-34 and 1p13.2, respectively (Tu et al. 2014; Stuart et al. 2013). Due to its low prevalence, there is a lack of studies on this topic. Here, HPSE2 is linked to Ochoa syndrome.