Russell-Silver Syndrome

Russell-Silver syndrome is a type of growth disorder usually accompanied by distinctive facial features, and often by asymmetric limbs. Babies with this condition typically have difficulty feeding and growing. Although adolescents and adults with Russell-Silver syndrome will be shorter than average, the syndrome does not significantly impact life expectancy.

Russell-Silver syndrome is now thought to be a genetic disorder, caused by abnormalities in either chromosome 7 or chromosome 11. Most cases are not inherited but are thought to be due to spontaneous mutations.

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

Symptoms

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

• Low birthweight
• Distinctive facial features which include a small triangular face (a high forehead that tapers to a small jaw), prominent nasal bridge, and down-turning corners of the mouth
• A normal-sized head but because the body is small, the head looks large in comparison
• Overgrowth of one side of the body, resulting in asymmetry of arms and/or legs
• Defects of fingers and toes, such as curving in or fusion

Diagnosis

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 but may be harder to recognize in teenagers and adults. Genetic testing can be done 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 will have difficulty with language and math skills. In addition, physical and occupational therapy are helpful to promote physical development.