Symptoms:

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

Signs and tests:

The condition is usually diagnosed by early childhood. The doctor will perform a physical exam. Signs include:

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

There are no specific laboratory tests to diagnose Russell-Silver syndrome. However, the following tests may be done:

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