Russell-Silver syndrome

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Silver-Russell syndrome; Silver syndrome

• Low birth weight
• Poor growth
• Short height (stature)
• Delayed bone age
• Normal width of head
• Wide forehead with a small triangle-shaped face and small, narrow chin
• Arms and legs of differing lengths
• Curving of the pinky toward the ring finger
• Short, stubby fingers and toes
• Cafe-au-lait (coffee with milk) colored spots
• Arm span less than height (short arms)
• Kidney problems, such as:
  • Hydronephrosis
  • Renal tubular acidosis
  • Posterior urethral valves
  • Horseshoe kidney
• Gastroesophageal reflux disease
• Swelling of the esophagus (food pipe)
• Failure to thrive Failure to thrive

The condition is usually diagnosed no later than early childhood. The doctor will perform a physical exam. Signs include a:

• Triangle-shaped face with broad forehead
• Small, pointed chin
• Thin, wide mouth

There are no specific laboratory tests for the diagnosis of Russell-Silver syndrome. However, the following tests may be done:

• Blood sugar
• Growth hormone
• Skeletal survey, to rule out other conditions that may mimic Russell-Silver syndrome
• Chromosome testing
• Bone age testing

Review Date: 12/12/2006
Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.