Russell-Silver syndrome

Disease Overview

Russell-Silver syndrome (RSS) is a rare condition associated with poor growth both before and after birth.[12199] Signs and symptoms vary and may include low birth weight, short stature, characteristic facial features, large head in relation to body size, body asymmetry, and feeding difficulties. Other features may include poor appetite, clinodactyly (curved finger), digestive system abnormalities, delayed development, and/or learning disabilities.[12199][815] The genetic causes of RSS are complex and relate to certain genes that control growth. Sometimes, the genetic cause cannot be identified. Most cases are not inherited from a parent and occur sporadically. In rare cases, RSS may be inherited in an autosomal dominant or autosomal recessive manner.[815] Because RSS can lead to a wide variety of physical abnormalities and health problems, treatment ideally should be managed by a team of specialists with knowledge of RSS. Early intervention is recommended to help children with RSS reach their full potential.[12199]

Synonyms

• Silver-Russell syndrome
• Silver-Russell dwarfism
• Russell Silver syndrome
• Silver Russell syndrome