Russell-Silver syndrome is a rare genetic growth disorder. Symptoms include low birth weight and several physical abnormalities. The condition is thought to be caused by changes in certain genes that control growth. Diagnosis can be done through a clinical exam and genetic testing. The outlook for Russell-Silver syndrome is positive.
Russell-Silver syndrome is a rare genetic disorder that affects how your child’s body grows before and after birth. Children born with this condition often have a low birth weight and congenital anomalies (birth defects). In addition, they often have significant feeding issues and other health complications.
Russell-Silver syndrome is a genetic condition that can affect any child. The disorder affects boys and girls equally.
Russell-Silver syndrome is a rare genetic condition that affects an estimated one in every 15,000 to 100,000 births. The exact frequency of the condition is unknown. Russell-Silver syndrome characteristics often resemble those of other growth disorders and congenital conditions. For this reason, many cases of Russell-Silver syndrome may go undiagnosed.
Dr. Henry Silver discovered certain features of Russell-Silver syndrome in 1953. Dr. Alexander Russell discovered additional features of the condition in 1954. For almost 20 years, researchers thought Silver and Russell had found two separate conditions. Later it was determined the physicians were seeing different features of the same condition. In the United States, the condition is commonly called Russell-Silver syndrome. In Europe, the condition is called Silver-Russell syndrome.
Signs of Russell-Silver syndrome vary widely from child to child. The condition can affect many different parts of your child’s body. Common signs of the condition may include:
Because of the physical effects of Russell-Silver syndrome, your child may experience health complications. These complications can include:
Adults with Russell-Silver syndrome typically have short stature. The average height for men with Russell-Silver syndrome is 4 feet, 11 inches. The average height for women with the condition is 4 feet, 7 inches.
In addition, research has shown adults with Russell-Silver syndrome may be at risk for new health complications as they get older. These complications can include:
Russell-Silver syndrome is a complicated disorder. Genetic abnormalities of certain genes that control growth have been found to cause the condition. Russell-Silver syndrome has been linked to a genetic change in chromosomes 7 or 11 in about 60% of people with the condition.
However, in about 40% of people clinically diagnosed with the condition, no genetic cause has been found. Changes involving chromosomes other than 7 and 11 may cause the condition. Researchers continue to study other genetic changes that could lead to this disorder.
Diagnosing Russell-Silver syndrome can be difficult because the characteristics and severity of the condition vary widely. However, your baby’s healthcare provider will typically give your baby a physical examination. They’ll also request molecular genetic testing. Genetic testing can confirm the diagnosis in up to 60% of cases.
Treatment for Russell-Silver syndrome varies. It depends on the symptoms present and the severity of the condition. Management of the disorder should start as soon as possible for the best possible outcome for your child. A team of healthcare providers will provide treatment for your baby. This team may include:
Treatment will be associated with your child’s condition:
Nutritional support will be the most important treatment in the first two years of your child’s life. Your child’s healthcare providers will make sure your child gets enough calories. If necessary, this may be done through a feeding tube:
Growth hormone (GH) therapy:
Acid reflux may be treated with:
Hypoglycemia may be treated with:
Various dental procedures, such as braces or oral surgery, may be needed to correct problems with your child’s teeth.
Special braces or shoes can sometimes help with walking and can improve your child’s balance. Rarely, surgery may be required to correct limb asymmetry.
In addition to treatment, your baby’s healthcare provider may recommend several therapies. These include:
Russell-Silver syndrome is the result of a genetic change, and there’s no way to prevent the condition. If you plan on becoming pregnant and want to understand your risk of having a child with a genetic condition, talk with your healthcare provider about preconception genetic testing.
Russell-Silver syndrome is a lifelong condition, but it doesn’t have any life-threatening side effects. The outlook for your child is positive, but it depends on diagnosis and treatment. Your baby will need immediate medical care and follow-up. If treated early and successfully, your baby will have a normal life expectancy.
Russell-Silver syndrome and Silver syndrome are both rare genetic conditions caused by a change in a gene. Silver syndrome is caused by a change in the BSCL2 gene. Silver syndrome is a genetic disorder that involves muscle stiffness (spasticity) and paralysis of the lower limbs (paraplegia). The symptoms of Silver syndrome don’t usually start until late childhood. Symptoms worsen as people get older, but individuals with the condition usually live an active life.
A note from Cleveland Clinic
While a diagnosis of Russell-Silver syndrome can be overwhelming, it’s important to remember children born with the condition generally have a positive prognosis. With early intervention and treatment, Russell-Silver syndrome isn’t a life-threatening condition. A team of specialists will work with you and your child so they can go on to lead a normal, healthy life.
Last reviewed by a Cleveland Clinic medical professional on 12/15/2021.
Learn more about our editorial process.