Russell Silver Syndrome

Russell-Silver Syndrome (RSS) is a rare genetic growth disorder, present at birth. The congenital disorder is characterized by low birth weight, short height, poor growth, and size differences in the two sides of the body. Other names for RSS are Silver-Russell Syndrome and Russell-Silver Dwarfism.

Causes And Risk Factors

An abnormality in chromosome 11 affects gene growth in 35 percent of children with Russell-Silver Syndrome. Up to ten percent have a defect for chromosome 7. Most of the time, a cause cannot be identified.  

For most RSS patients, there is no family history of the disease. Boys and girls appear to be equally affected by the condition. Some estimates say 1 in 3,000 people will get RSS. Other estimates report 1 in 100,000 people.  

Signs And Symptoms

Many things can indicate Russell-Silver Syndrome. For example, a child will have arms and legs of different lengths. Or they may have birthmarks the color of coffee-and-milk spots. Sometimes the pinky finger curves toward the ring finger.

Other signs and symptoms include low birth weight and poor growth; a wide forehead and narrow chin; short height and arms; stubby fingers and toes; esophagus swelling; gastroesophageal reflux disease (GERDS); and kidney problems.

Diagnosis

Doctors usually diagnose Russell-Silver Syndrome in early childhood, through a physical exam. The first signs of the disorder are a small, pointed chin; a thin, wide mouth; a triangle-shaped face; and a broad forehead.  

Although no specific lab tests are designed to diagnose RSS, doctors may perform a number of tests to assist with diagnosis. These include blood sugar tests, bone age testing, a skeletal survey, growth hormone tests, and genetic testing.  

Treatment

The features of Russell-Silver Syndrome are not as evident in older children and adults as they are in babies and young children. The disorder usually has no affect on a person’s intelligence, but it may cause learning disabilities.  

If growth hormone is lacking, a doctor may prescribe growth hormone replacement. Other treatments include dietary changes, physical therapy, and special education.