The therapeutic benefit of growth hormone in the management of short stature in SPENCD was clinically evaluated by Tuysuz et al. (2004) that described a patient who underwent GH therapy for 2 years from the age of 9 years, such that she achieved a normal height (153 cm: 3–10 centile). The gene discussed is GH1; the disease is Spondyloenchondrodysplasia with immune dysregulation.