© Martinez-Agosto Laboratory, Department of Human Genetics, University of California, Los Angeles, 2008-2015.

 

Russell-Silver

Description:
Russell-Silver syndrome (RSS) is characterized by intrauterine growth retardation accompanied by postnatal growth deficiency. The birth weight of affected individuals is typically two or more SD below the mean, and postnatal growth two or more SD below the mean for length or height. Affected individuals typically have proportionately short stature, normal head circumference, fifth-finger clinodactyly, typical facial features, and limb-length asymmetry that may result from hemihypotrophy with diminished growth of the affected side. Growth velocity is normal in children with RSS. The average adult height of males is 151.2 cm and that of females is 139.9 cm. Evidence exists that children with RSS are at significant risk for developmental delay (both motor and cognitive) and learning disabilities.

Testing:
RSS is a genetically heterogeneous condition and for most affected individuals represents a phenotype rather than a specific disorder. The diagnosis is therefore primarily based upon identification of consistent clinical features, especially prenatal and postnatal growth retardation with normal head circumference. About 10% of individuals with RSS will have maternal uniparental disomy for chromosome 7, confirmatory testing for which is available clinically. Epigenetic mutations of the imprinted region of chromosome 11p15.5 appear also to be implicated in some individuals with RSS; testing for these changes is clinically available.

More information:
Russell-Silver