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    Silver–Russell dwarfism, also known as Russell–Silver syndrome, is a rare growth disorder occurring in approximately 1 in 50,000 to 100,000 births that is characterized by short stature and asymmetry of the body and face. While its exact cause is unknown, research suggests it involves a genetic component related to hypomethylation of the H19 and IGF2 genes and in some cases is associated with maternal uniparental disomy of chromosome 7. There is no statistical difference in occurrence between males and females, and in rare cases it has been associated with the use of assisted reproductive technologies.

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    Description of Silver Russell Syndrome

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    Silver–Russell dwarfism, also known as Russell–Silver syndrome, is a rare growth disorder occurring in approximately 1 in 50,000 to 100,000 births that is characterized by short stature and asymmetry of the body and face. While its exact cause is unknown, research suggests it involves a genetic component related to hypomethylation of the H19 and IGF2 genes and in some cases is associated with maternal uniparental disomy of chromosome 7. There is no statistical difference in occurrence between males and females, and in rare cases it has been associated with the use of assisted reproductive technologies.

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    Silver Russell Syndrome

    Uploaded by

    B
    Silver–Russell dwarfism, also known as Russell–Silver syndrome, is a rare growth disorder occurring in approximately 1 in 50,000 to 100,000 births that is characterized by short stature and asymmetry of the body and face. While its exact cause is unknown, research suggests it involves a genetic component related to hypomethylation of the H19 and IGF2 genes and in some cases is associated with maternal uniparental disomy of chromosome 7. There is no statistical difference in occurrence between males and females, and in rare cases it has been associated with the use of assisted reproductive technologies.

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    © All Rights Reserved
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    SilverRussell dwarfism, also called SilverRussell syndrome (SRS) or RussellSilver

    syndrome (RSS) is a growth disorder occurring in approximately 1/50,000 to 1/100,000 births.


    In the United States it is usually referred to as RussellSilver syndrome, and SilverRussell
    syndrome elsewhere. It is one of 200 types of dwarfism and one of five types of primordial
    dwarfism and is one of the few forms that is considered treatable in some cases.
    There is no statistical significance of the syndrome occurring in males or females.
    Its exact cause is unknown, but present research points toward a genetic component, possibly
    following maternal genes.
    It involves hypomethylation of H19 and IGF2.[1] In 10% of the cases the syndrome is associated
    with maternal uniparental disomy (UPD) on chromosome 7.[2] This is an imprinting error where
    the person receives two copies of chromosome 7 from the mother (maternally inherited) rather
    than one from each parent.
    Like other imprinting disorders (e.g. PraderWilli syndrome, Angelman syndrome, and
    BeckwithWiedemann syndrome), SilverRussell syndrome may be associated with the use of
    assisted reproductive technologies such as in vitro fertilization.[3]

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