Silver-Russell syndrome. Part II

Features of the Silver-Russell syndrome (SRS) may overlap with other entities characterized by intrauterine growth restriction, making clinical diagnosis often ambiguous. Numerous scoring systems have been continuously modified, based on anthropometric parameters, dysmorphic features and health issues, including growth and gastrointestinal disturbances. Clinical criteria serve for screening patients for further genetic tests. The latter include tests for analyzing DNA methylation of 11p15 loci and multilocus methylation/imprinting defects (MLMD/MLID). Other techniques useful for SRS diagnosis include analysis for maternal uniparental disomy (UPD(7)mat) and molecular karyotypying if submicroscopic imbalances are suspected. The recurrence risk of SRS within a family is generally estimated low; rare familial cases depend on influence of additional genetic mechanisms. Children with SRS should be under multidisciplinary care. Failure to thrive or gastroesophageal reflux require careful estimation of caloric intake and composition of foods by a gastroenterologist and a nutritionist. Growth and puberty should be followed by an endocrinologist, and treatment with recombinant or biosimilar growth hormone is available for children with SRS. Speech and physiotherapists, psychologists and neurologists are involved in management of psychomotor development. Studies in genetically confirmed cohorts of children with SRS are necessary to evaluate long-term developmental outcome and metabolic sequelae, particularly carbohydrate disturbances in this group of patients.