Silver–Russell syndrome (SRS)

Silver-Russell syndrome is a spectrum of abnormalities characterized by intrauterine and postnatal growth retardation, typical external manifestations and, in some cases, body asymmetry.

In particular, relative macroscopes are described associated with: a triangular face, a large and prominent forehead, thin lips turned downward, and a sharp chin. Silver Russell Syndrome is a genetically heterogeneous disease and, for most affected individuals, is a phenotype rather than a specific disease. Therefore, the diagnosis is primarily based on identifying compatible clinical signs. Hypomethylation of the imprinting center at the level of the 11p15.5 region of the paternal chromosome is found in 35-50% of individuals with SRS. In about 10% of cases, maternal single-breed disomy of chromosome 7 is detected. The incidence is estimated at 1–30 per 100,000 cases. Patients with this condition usually have growth retardation, which affects short stature in children and adults. Growth hormone deficiency is not always present. Also described are: feeding difficulties, hypoglycemia and night sweats (mostly in early childhood), skeletal abnormalities (limb mismatch, clinodactyly, syndactyly, camptodactyly), urogenital anomalies, and coffee stains. There may be a slight delay in cognitive development.