Russell-Silver Syndrome

What is Russell-Silver syndrome?

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.

Who does Russell-Silver syndrome affect?

Russell-Silver syndrome is a genetic condition that can affect any child. The disorder affects boys and girls equally.

How common is Russell-Silver syndrome?

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.

When was Russell-Silver syndrome discovered?

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.

What are the symptoms of Russell-Silver 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:

Growth

• Intrauterine growth restriction (IUGR): When your baby doesn’t grow as expected during your pregnancy.
• Low birth weight.
• Failure to grow and gain weight as expected after birth (failure to thrive).
• Short stature.

Skull and facial (craniofacial) features

• Large head size compared to the rest of their body (height and weight).
• Delayed closure of the soft spot (fontanelle).
• Triangular-shaped face.
• Protruding forehead.
• Narrow chin.
• Small jaw (micrognathia).
• Down-turned corners of their mouth.

Dental issues

• Missing teeth (hypodontia).
• Abnormally small teeth (microdontia).
• Dental crowding.
• Cleft palate.

Other physical characteristics

• Arms and legs have different lengths (hemihypertrophy).
• Curving inward of the fifth (pinky) fingers (clinodactyly).
• Scoliosis.

What are the complications of Russell-Silver syndrome?

Because of the physical effects of Russell-Silver syndrome, your child may experience health complications. These complications can include:

Feeding difficulty

• Poor appetite.
• Chronic acid reflux (GERD).
• Esophagitis.

Neurodevelopment issues

• Delayed motor skills (developmental delay).
• Speech delay.
• Learning differences.

Other complications

• Growth delay.
• Difficulty walking or balancing.
• Hypoglycemia (low blood sugar).
• Kidney problems.
• Reproductive system and urinary issues.

How does Russell-Silver syndrome affect adults?

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:

• Metabolic syndrome.
• Low muscle mass.
• Low bone density.
• Low sex drive (hypogonadism).
• Testicular cancer.
• Myoclonus dystonia: A disorder that causes quick, involuntary movements.

What causes Russell-Silver syndrome?

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.

How is Russell-Silver syndrome diagnosed?

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.

How is Russell-Silver syndrome treated?

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:

• Your baby’s pediatrician.
• A developmental pediatrician.
• A physician who specializes in the skeleton (orthopedist).
• A physician who specializes in glands and hormones (endocrinologist).
• A physician who specializes in the digestive system (gastroenterologist).
• A dietitian.
• A neurologist.
• A dental specialist.
• A speech therapist.
• A psychologist.
• A genetic counselor and a geneticist.

Treatment will be associated with your child’s condition:

Growth

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:

• Nasogastric tube: A thin tube runs from your baby’s nose to their stomach through their esophagus.
• Gastrostomy tube: A tube is inserted directly into your baby’s stomach through a small cut (incision) in their belly (abdomen) wall.

Growth hormone (GH) therapy:

• Improves your child’s body structure, motor development and appetite.
• Reduce the risk of hypoglycemia (low blood sugar).
• Increases growth.

Feeding

Acid reflux may be treated with:

• Smaller, more frequent meals.
• Keep your baby upright while eating.
• Medications including H2 blockers, which decrease acid production, and proton pump inhibitors, which are stronger acid blockers that also help heal damaged esophagus tissue.
• Fundoplication: A surgical procedure that strengthens the valve (sphincter) between your child’s esophagus and stomach.

Hypoglycemia

Hypoglycemia may be treated with:

• Frequent feeding.
• Dietary supplements.
• Complex carbohydrates.

Dental

Various dental procedures, such as braces or oral surgery, may be needed to correct problems with your child’s teeth.

Other complications

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.

How do I manage the symptoms of Russell-Silver syndrome?

In addition to treatment, your baby’s healthcare provider may recommend several therapies. These include:

• Psychosocial therapy: Psychosocial therapists (social workers) provide mental health support. They can help with problems with your child’s self-image, peer relationships and social interactions.
• Genetic counseling: Genetic counselors can confirm your baby’s diagnosis and offer counseling to you and your family.
• Physical therapy: Physical therapists help with physical exercises to stretch and strengthen your child’s muscles and tendons.
• Occupational therapy: Occupational therapists help with fine motor skills, visual perception, cognitive reasoning and sensory processing.
• Speech therapy: Speech therapists help with speech, language, communication, and feeding and swallowing

How can I reduce my risk of having a child with Russell-Silver syndrome?

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.

What can I expect if I have a child with Russell-Silver syndrome?

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.

What’s the difference between Russell-Silver syndrome and Silver syndrome?

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.