Different hypotheses to understand the causes of SAMS including depletion of cholesterol in muscle cell membranes, reduction of intermediates of the cholesterol biosynthetic pathway, reduction of seleno-protein synthesis, inhibition of AKT/mTOR signaling pathways, modification of ion-channel conductance, genetic disposition, modulation of mitochondrial function and initiation of an aberrant immuno-myopathy are being entertained but a knowledge gap about definitive causation of SAMS continues to persist (Camarino et al., 2021). The gene discussed is AKT1; the disease is short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome.