Complete loss of function (LoF) SHOX mutation has been classically associated with severe skeletal abnormalities such as Langer Mesomelic Dysplasia, while insufficient expression has been tied to a broad range of conditions including but not limited to idiopathic short stature, Turner’s syndrome, and Leri-Weil dyschondrosteosis (Gürsoy et al., 2020). The gene discussed is SHOX; the disease is Langer mesomelic dysplasia.