Russell-Silver dwarfism

Radswiki et al.

Russell-Silver dwarfism is a very rare syndrome characterised by:

It is considered a type of primordial dwarfism.

Genetics

Most cases are sporadic 7. Genetic and epigenetic disturbances may be detected in approximately 50% of patients with classic features. Hypomethylation of the imprinting in chromosome 11p15 is considered a major epigenetic disturbance. Maternal uniparental disomy (mUPD) of chromosome 7 can account for 10% of cases 3.

Associations
Antenatal ultrasound

Individual sonographic features are non-specific. Fetal biometric parameters may show shortened fetal long bones.

Other features that may be detected sonographically include:

Prognosis is generally favourable.

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Article Information

rID: 14663
Section: Syndromes
Synonyms or Alternate Spellings:
  • Russell-Silver syndrome
  • Russell Silver dwarfism
  • Russell-Silver syndrome (RSS)
  • Silver-Russell syndrome
  • Silver-Russell syndrome (SRS)

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