In 1989, Collins et al. reported a new syndrome presented in a mother and her two daughters for the first time. Disproportionate short stature with ptosis and valvular heart lesions is a familial syndrome characterized by severe short stature with disproportionately short limbs, clinodactyly, small hands, valvular heart abnormalities of the heart valve, and distinctive facial features, including ptosis, a high-arched palate, and irregular crowded dentition (Fig. 1) (Collins et al. 1990). The prevalence of this syndrome is <1/1000000 (Orphanet 2024). Symptoms of this disorder could appear in a newborn or infant (GARD 2024).