Babies with Silver-Russell syndrome have a low birth weight and fail to thrive as infants. Head growth is normal, however, so the head may appear unusually large compared to the rest of the body. Affected children are thin and have poor appetites, and some develop hypoglycaemia (low blood sugar) as a result of feeding difficulties.
Other characteristics may include a short incurved fifth finger, triangular facial features, turned down corners of the mouth, café au lait spots (patches of skin that resemble the colour of coffee and milk) and syndactyly (where two or more digits are fused together).
In a small minority of cases, mild neurological delay can occur. In the first year of life excessive sweating, particularly at night is common and maybe because of chronic hypoglycaemia. This is extremely important to recognise and may well be the cause of the educational difficulties that have been identified in such children.
Life expectancy for somebody with Silver-Russell syndrome is not shortened.