Recent insights in Silver-Russell Syndrome

Abstract

The aim of this review is to summarize the most recent information about Silver-Russell syndrome (SRS), a clinically and genetically heterogeneous imprinting disorder that causes prenatal and postnatal growth retardation. Particular attention was focused on several recommendations for clinical diagnosis and management of patients with SRS published by the Consensus Statement on SRS in 2017. Clinical aspects include intrauterine and postnatal growth retardation with relative macrocephaly, a typical triangular face, body asymmetry and other less specific features. Diagnosis is still challenging because of clinical diagnosis not often confirmed by molecular findings. Overlap exists between the care of children born small for gestational age and those with SRS. However, several recommendations are specific for SRS. Treatment goals can be achieved by a multidisciplinary team approach, but natural history of this disease should be studied by long-term follow up until adulthood.