Silver-Russell syndrome

Abstract

Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous disorder which is sporadic. The diagnosis is predominantly clinical and is based on the variable combination of the following characteristics: intrauterine growth retardation, short stature with absent catch-up growth, unsatisfactory weight, relative macrocephaly, triangular face, and body asymmetry as well as some minor anomalies, including clinodactyly V. The mechanism of growth retardation in children with SRS is not fully elucidated to date. Nowadays, epigenetic defects can be found in about 50% of the SRS children. 10% of the patients have a maternal uniparental disomy of chromosome 7 (UPD7). In addition, up to 40% of the SRS patients have an epimutation at the paternal chromosome 11. Short stature in SRS can be treated with pharmacological doses of recombinant human growth hormone. As a result satisfactory short-term catch-up growth is observed. Data concerning final height in treated children are still missing.