Patients with Silver-Russell-Syndrome from Birth to Adulthood: Diagnosis, Development and Medical Care

Silver-Russell syndrome (SRS) is a rare congenital disorder, characterized by a wide spectrum of signs and symptoms, which vary significantly between affected individuals. The understanding of the genetic basis of the phenotype has advanced greatly during the past decades. Together with the typical clinical picture intrauterine growth retardation and severe short stature are the key features. Failure to thrive in conjunction with frequent feeding problems in infancy and early childhood are a major challenge for the parents. In parallel to the genetic research, medical care of these children improved dramatically, and this article describes the most important issues. Treatment of short stature with rhGH as part of the approved SGA indication is able to improve growth and final height in these children. This article reviews some of the major aspects related to some of these issues.