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Russell-Silver Syndrome

  • Characterized by intrauterine growth retardation with postnatal growth deficiency.

  • Individuals have proportionately short stature, normal head circumference, typical facial features, clinodactyly (incurved fifth digit), and limb length asymmetry.

  • There is evidence that these individuals may be at increased risk for both developmental delay and learning disabilities.

  • There are no specific prevalence figures available for Russell-Silver syndrome.

  • The genetic cause of this condition is extremely variable and most cases are due to sporadic causes. However, 10% of cases are due to maternal uniparental disomy of chromosome 7.

  • Most cases are diagnosed based on the clinical features, not on a genetic test.

  • Prenatal diagnosis is usually not possible; however, testing for uniparental disomy of chromosome 7 can help confirm the diagnosis in a child in a small proportion of cases.

A, a 6-month old; height age, 2 months. B, a 17-month-old girl with height age of 6 months and 2-year-old boy with height age of 15 months.
TOP: A 6-month old; height age, 2 months. Note the asymmetric leg length (Reprinted from J Pediatr, 70(3), Smith DW, "Compendium on shortness of stature", 483, 1967, with permission from Elsevier Science).
BOTTOM: A 17-month-old girl with height age of 6 months and 2-year-old boy with height age of 15 months. Neither child has asymmetry, but they have small facies, slimness, and a "loose" sitting posture (Reprinted from J Pediatr, 79(5), Gareis FJ, Smith DW, Summitt RL, "The Russell-Silver syndrome without asymmetry", 775, 1971, with permission from Elsevier Science).