Russell-Silver Syndrome: Symptoms, Causes & Information

Russell-Silver syndrome often leads to slowed growth, body asymmetry and short height. Children with this condition are usually born with normal intelligence, although learning disabilities can occur later on.

Cause

• In most cases, no cause can be determined. According to the National Institutes of Health, approximately 7 to 10 percent of patients have a defective maternal uniparental disomy gene. Most children have no family history of this disorder.

Symptoms

• Russell-Silver symptoms include delayed bone age, different arm and leg lengths, low birth weight, kidney problems, stubby fingers and toes, triangle-shaped face, wide forehead, narrow chin, gastroesophageal reflux disease, café-au-lait colored spots and poor growth. Symptoms are more prominent in infants and young children.

Diagnosis

• Diagnosis, which usually occurs in early childhood, can be based on physical appearance. Diagnostic testing of bone age, chromosomes, blood sugar, growth hormone and skeletal survey can also be done, although there is no definitive test for this condition.

Treatment

• Growth hormone replacement or a proper diet recommended by a nutritionist or gastroenterologist can enhance growth. Learning disabilities can be handled through special education. Physical therapy might also be needed.

Complications

• Psychological help or counseling might be needed for children who develop emotional problems or low self-esteem due to their physical appearance. Small jaws could lead to trouble with speaking or chewing.