SAMS is typically associated with variants in KCNJ10, which encodes for the potassium inwardly rectifying channel subfamily J member 10 (KCNJ10), a voltage‐gated potassium channel (VGKC) that is mainly expressed in the brain, spinal cord, inner ear, and kidneys. Here, KCNJ10 is linked to short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome.