Silver–Russell syndrome

[1] Although confirmation of a specific genetic marker is in a significant number of individuals, there are no tests to clearly determine if this is what a person has.

[3] Its exact cause is unknown, but present research points toward a genetic and epigenetic component, possibly following maternal genes on chromosomes 7 and 11.

[4] Half of patients with Silver–Russell syndrome do not have an identified molecular etiology which suggests the involvement of other unknown genes.

[4] This is the result of non-disjunction, where the person receives two copies of chromosome 7 from the mother (maternally inherited) rather than one from each parent.

[7] Interestingly, patients with Silver–Russell syndrome have variable hypomethylation levels in different body tissues, suggesting a mosaic pattern and a postzygotic epigenetic modification issue.

[12] The caloric intake of children with Silver–Russell syndrome must be carefully controlled in order to provide the best opportunity for growth.

To prevent aggravating posture difficulties children with leg length differences may require a raise in their shoe.

This may enable the child to begin their education at a normal height, improving their self-esteem and interaction with other children.