| Abstract [eng] |
Background. Silver-Russell syndrome (SRS) is a rare disorder characterized by intrauterine and postnatal growth retardation, distinct facial features, and various systemic complications. The syndrome's global incidence varies from 1 in 30,000 to 1 in 100,000 individuals. While most SRS cases have an identified molecular cause, some patients with possible phenotypes lack genetic confirmation, indicating that not all etiological mechanisms are known. Aim: to conduct a literature review on Silver-Russell syndrome, focusing on its’ etiology, diagnostics, and treatment options. Methods. A literature review was conducted on the PubMed database using the keywords: “Silver-Russell syndrome”, “growth retardation”, “feeding difficulties”. Articles relevant to the topic and published in English were selected for the analysis. Results. The etiology of Silver-Russell syndrome involves a complex mix of genetic and epigenetic mechanisms, including alterations in imprinted genes and molecular pathways that affect growth regulation. Clinically, individuals with this syndrome exhibit a spectrum of features, such as body asymmetry, facial dysmorphisms, feeding difficulties, and an increased risk of metabolic and endocrine complications. Also, psychosocial and behavioral problems have been observed in this population. SRS treatment is symptomatic and it mainly focuses on nutritional support, hypoglycemia prevention, and improving growth. Conclusions. Silver-Russell syndrome leads to a great variety of physical and functional abnormalities. Therefore, individualized treatment and collaboration among different healthcare professionals are the key to optimizing the care of individuals with Silver-Russell syndrome. Although the outcome can be affected by the severity of symptoms and genetics, most patients have a good long-term prognosis. |
