Russell-Silver syndrome
Genetic disorder characterized by intrauterine and postnatal growth restriction, distinctive facial features, and body asymmetry.
Full Definition
Russell-Silver syndrome (RSS) is a rare genetic disorder affecting growth and development. Key features include severe intrauterine growth restriction (IUGR), postnatal growth failure, relative macrocephaly, triangular-shaped face, body asymmetry, and feeding difficulties. The condition is primarily caused by imprinting defects affecting chromosome 11p15 or maternal uniparental disomy of chromosome 7. Children with RSS typically have normal intelligence despite their growth challenges. Management involves growth monitoring, nutritional support, and consideration of growth hormone therapy in appropriate cases.
Usage
Usage note: May be abbreviated as RSS; ensure correct spelling with hyphen between Russell and Silver.
In Context
- "The patient's clinical features and genetic testing confirmed a diagnosis of Russell-Silver syndrome." — Diagnostic summary
- "Growth hormone therapy was initiated for Russell-Silver syndrome after demonstrating growth hormone deficiency." — Treatment plan