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Background: Since the underlying cause of idiopathic short stature can indeed be undiagnosed mucopolysaccharidosis type I, it is critical to identify patients with mucopolysaccharidosis type I among screened patients with idiopathic short stature., Objective: The primary objective of this study is to determine the prevalence of mucopolysaccharidosis type I disease in a high-risk group (ie, patients with idiopathic short stature)., Methods: We plan to perform a multicenter, cross-sectional screening study to primarily assess the prevalence of mucopolysaccharidosis type I disease in patients with idiopathic short stature. All eligible patients will be tested after obtaining written informed consent from their parents and guardians. Eligible patients will be recruited over 18 months from specialty care centers for pediatrics and genetics., Results: This protocol was approved by the Institutional Review Board of King Fahd Medical City and funded by Sanofi Genzyme Saudi Arabia. We expect to collect data from ≥800 patients, as determined by our sample size calculation., Conclusions: Saudi Arabia is the largest country in the Arabian Peninsula; it has a population of more than 28 million people. To date, there are no reliable data regarding the incidence and prevalence of mucopolysaccharidosis type I in Saudi Arabia; therefore, future multicenter studies will be needed. Further, the prevalence of an attenuated form of mucopolysaccharidosis type I is largely underestimated in Saudi Arabia due to the absence of an effective newborn screening program. Therefore, the implementation of a nationwide newborn screening program is essential for the accurate estimation of the burden of mucopolysaccharidosis and the early diagnosis of patients., International Registered Report Identifier (irrid): PRR1-10.2196/28619., (©Danyah Alsafadi, Aly Ezzat, Fatima Altamimi, Marwan ElBagoury, Mohammed Olfat, Mohammed Saleh, Sherif Roushdy, Yahia Aktham. Originally published in JMIR Research Protocols (https://www.researchprotocols.org), 31.08.2021.)