Potocki-Shaffer syndrome (PSS) is a genetic condition characterized by the deletion of certain genes within the proximal region of the short arm of chromosome 11 (del11 (p11.2p12)). PSS is considered a rare disorder, and its exact prevalence is unknown (Montgomery et al. 2013). Fewer than 100 cases have been documented to date. This condition occurs when heterozygous deletions of varying sizes exist in that specific chromosomal region. The presentation of signs and symptoms of PSS can vary significantly from patient to patient. Individuals with PSS exhibit a range of abnormalities, including intellectual disability, developmental delay, central nervous system (CNS) abnormalities, skeletal and craniofacial anomalies such as numerous exostoses and bilateral parietal foramina, as well as genitourinary tract irregularities (Trajkova et al. 2020).