Russell-Silver Syndrome: Rare Condition Needs Multidisciplinary Care
Russell-Silver Syndrome (RSS), a rare congenital condition, is marked by stunted growth and limb or facial asymmetry. Diagnosis involves multiple specialists and can be mistaken for other genetic disorders.
RSS diagnosis requires a team of experts, including geneticists, gastroenterologists, nutritionists, and endocrinologists. It may be mistaken for conditions like Fanconi anemia syndrome or Nijmegen breakage syndrome. About 60% of cases are due to chromosome defects, and 10% to maternal uniparental disomy of chromosome 7. However, the cause remains undetermined for most cases.
Treatment focuses on managing symptoms to support normal development. This includes nutrition schedules, growth hormone injections, and various therapies. Regular monitoring and testing are crucial to ensure developmental milestones are met. Most symptoms improve with age. People with RSS should consider genetic counseling to understand inheritance odds.
Russell-Silver Syndrome is a complex condition requiring a multidisciplinary approach. With proper management, children with RSS can develop normally despite initial symptoms like intrauterine growth retardation, limb asymmetry, and developmental delays.
