The tested variant, rs4149056 T > C, is part of SLCO1B1*5 and *15 alleles [25] and is believed to confer a three-fold increased risk of developing SAMS and explains more than 60% of these cases [32, 33]. This evidence concerns the gene SLCO1B1 and short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome.