Russell-Silver syndrome

an inherited condition characterized by short stature, skeletal asymmetry, café au lait spots, and a small triangular face.

Etiology:

imprinted gene mutation on chromosome 7 is suggested to be responsible for the Russell-Silver Syndrome phenotype. This gene mutation has been found in 10% of cases (Goto et al, 2000).

Manifestations:

  • Arms and legs of different lengths
  • Cafe-au-lait skin 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
  • Small stature
  • Short, stubby fingers and toes
  • esophageaomegaly
  • Wide forehead with a small triangle-shaped face and small, narrow chin

 Treatment and Management:

Maintaining caloric intake sufficient to meet growth requirements.

Pharmacologic intervention with Growth hormone.

Physiotherapy to facilitate increased range of motion and mobility.

Goto et al. 2000. Imprinting of Human GRB10 and Its Mutations in Two Patients with Russell-Silver Syndrome. The American Journal of Human Genetics. 67 (2): 476-482.

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