Saturday, February, 11, 2012

Russell-Silver syndrome

Table of Contents

Alternative Names

Silver-Russell syndrome; Silver syndrome


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
  • Genetic testing
  • Growth hormone
  • Skeletal survey (to rule out other conditions that may mimic Russell-Silver syndrome)

Review Date: 12/01/2010
Reviewed By: Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)