Russell-Silver syndrome (RSS) is a type of growth disorder usually accompanied by distinctive facial features, and often by asymmetric limbs. It is sometimes also called Silver-Russell syndrome or Silver-Russell dwarfism.

Babies with this condition typically have difficulty feeding and growing. Although adolescents and adults with Russell-Silver syndrome will be shorter than average, most people with RSS will live full, productive lives.

Russell-Silver syndrome affects all genders and people of all ethnic backgrounds.

Causes

Russell-Silver syndrome is now thought to be a genetic disorder, caused by abnormalities in either chromosome 7 or chromosome 11. Specifically, Russell-Silver syndrome is related to problems with some of the genes that control growth.

In about 40% of cases, the cause of Russell-Silver syndrome isn’t known. It is thought that these cases may be caused by problems with genes on other chromosomes, which have yet to be identified.

Most cases are not inherited but are thought to be due to spontaneous mutations.

Symptoms

Failure to grow is the primary symptom of Russell-Silver syndrome. Other symptoms include:

  • Low birthweightDistinctive facial features which include a small triangular face (a high forehead that tapers to a small jaw) and down-turning corners of the mouthA normal-sized head but because the body is small, the head looks large in comparisonOvergrowth of one side of the body, resulting in asymmetry of arms and/or legsDefects of fingers and toes, such as curving in of fifth finger and webbing of second and third toes

Diagnosis

The diagnosis of RSS is based on clinical findings.

In general, the most noticeable symptom of Russell-Silver syndrome is a child’s failure to grow, and this may suggest the diagnosis. The infant is born small and does not achieve normal lengths/heights for his/her age. The distinctive facial features may be identified in infants and children. In teenagers and adults with Russell-Silver syndrome, they may be harder to recognize.

Testing for Russell-Silver syndrome may include genetic testing to rule out other genetic disorders that may have similar symptoms.

Treatment

Because children with Russell-Silver syndrome have difficulty consuming enough calories for growth, parents need to learn how to optimize calorie intake, and special high-calorie formulas may be given. In many cases, a feeding tube will be necessary to help the child achieve optimal nutrition.​

Growth hormone therapy can help the child grow more rapidly, but he or she will still be shorter than average. Early intervention programs for young children are helpful since some children with Russell-Silver syndrome have learning disabilities, including developmental and speech delays. In addition, physical and occupational therapy are helpful to promote physical development.