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Is Silver-Russell Syndrome Genetic?

Yes
Heritability
~100%
Inheritance
imprinting
Key genes
IGF2 H19

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A growth retardation syndrome caused by imprinting defects at chromosome 11p15 or maternal UPD7. Associated with body asymmetry.

How Genetic Is Silver-Russell Syndrome?

Silver-Russell Syndrome has a strong genetic basis. Research estimates heritability at approximately 100%, meaning genetic factors account for the majority of variation in whether individuals develop this condition.

Key genes associated with Silver-Russell Syndrome: IGF2 H19. Variants in these genes have been identified through genome-wide association studies (GWAS) and clinical research as influencing susceptibility or severity.

Source: MedlinePlus Genetics

Does Family History Matter for Silver-Russell Syndrome?

Yes — family history is one of the strongest predictors of Silver-Russell Syndrome. If a first-degree relative (parent, sibling, or child) has been diagnosed, your own risk may be significantly elevated. Discussing your family history with a healthcare provider or genetic counsellor is strongly recommended.

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