Russell-Silver dwarfism is a very rare syndrome characterized by:
- intrauterine growth restriction: tends to give an asymmetrical IUGR
- postnatal growth restriction
- relatively large calvarium: pseudohydrocephalus
- clinodactyly/clinobrachydactyly of the small finger
- a typical triangular type face
It is considered a type of primordial dwarfism.
Most cases are sporadic . 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 .
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 favorable.