Silver-Russell syndrome

Common Name(s)

Silver-Russell syndrome, Russell-Silver Syndrome

Russell-Silver syndrome is a condition present at birth that involves poor growth, low birth weight, short height, and size differences (asymmetry) of parts of the body. Other signs and symptoms may include poor appetite; low blood sugar (hypoglycemia) as a result of feeding difficulties; a small, triangular face with distinctive facial features; clinodactyly; digestive system abnormalities; delayed development; and/or learning disabilities. The genetic causes of this syndrome are complex and relate to certain genes that control growth. Most cases are not inherited from an affected parent, but occur sporadically (i.e., by chance). In some cases, it is inherited in an autosomal dominant or autosomal recessive manner.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Silver-Russell syndrome" for support, advocacy or research.

The MAGIC Foundation

The MAGIC Foundation Mission The MAGIC Foundation is a national non-profit organization created to provide support services for the families of children afflicted with a wide variety of chronic and/or critical disorders, syndromes and diseases that affect a child’s growth. Since its inception the Foundation has grown to include support services for adults who were also impacted by these disorders.

Last Updated: 18 Jun 2015

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Silver-Russell syndrome" for support, advocacy or research.

The MAGIC Foundation

The MAGIC Foundation Mission The MAGIC Foundation is a national non-profit organization created to provide support services for the families of children afflicted with a wide variety of chronic and/or critical disorders, syndromes and diseases that affect a child’s growth. Since its inception the Foundation has grown to include support services for adults who were also impacted by these disorders.

http://www.magicfoundation.org

Last Updated: 18 Jun 2015

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General Support Organizations

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General Resources

About Russell Silver Syndrome

General Information for the parents of newly diagnosed children in easy to understand terms and many resources which parents of affected children find very helpful (including private chat groups).

Uploaded By: The MAGIC Foundation

Updated 7 Nov 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Silver-Russell syndrome" returned 55 free, full-text research articles on human participants. First 3 results:

Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes.
 

Author(s): Jana Sachwitz, Getrud Strobl-Wildemann, György Fekete, Laima Ambrozaitytė, Vaidutis Kučinskas, Lukas Soellner, Matthias Begemann, Thomas Eggermann

Journal:

 

Silver-Russell syndrome (SRS) is a growth retardation disorder with a very broad molecular and clinical spectrum. Whereas the association of SRS with imprinting disturbances of chromosomes 11p15.5 and 7 is generally accepted, there are controversial discussions on the involvement ...

Last Updated: 12 Mar 2016

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Pure Choriocarcinoma of the Ovary in Silver-Russell Syndrome.
 

Author(s): Tomoko Haruma, Chikako Ogawa, Takeshi Nishida, Tomoyuki Kusumoto, Keiichiro Nakamura, Noriko Seki, Takaaki Katayama, Yuji Hiramatsu

Journal: Acta Med. Okayama. 2015 ;69(3):183-8.

 

Pure ovarian choriocarcinoma is an extremely rare malignancy that can be gestational or non-gestational in origin. Silver-Russell syndrome (SRS) is a rare congenital developmental disorder characterized by pre- and postnatal growth failure, relative macrocephaly, a triangular face, ...

Last Updated: 23 Jun 2015

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A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome.
 

Author(s): Salah Azzi, Jennifer Salem, Nathalie Thibaud, Sandra Chantot-Bastaraud, Eli Lieber, Irène Netchine, Madeleine D Harbison

Journal: J. Med. Genet.. 2015 Jul;52(7):446-53.

 

Multiple clinical scoring systems have been proposed for Silver-Russell syndrome (SRS). Here we aimed to test a clinical scoring system for SRS and to analyse the correlation between (epi)genotype and phenotype.

Last Updated: 24 Jun 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Silver-Russell syndrome" returned 2 free, full-text review articles on human participants. First 3 results:

Silver-Russell syndrome: genetic basis and molecular genetic testing.
 

Author(s): Thomas Eggermann, Matthias Begemann, Gerhard Binder, Sabrina Spengler

Journal:

 

Imprinted genes with a parent-of-origin specific expression are involved in various aspects of growth that are rooted in the prenatal period. Therefore it is predictable that many of the so far known congenital imprinting disorders (IDs) are clinically characterised by growth disturbances. ...

Last Updated: 21 Jul 2010

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Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions.
 

Author(s): M P Hitchins, P Stanier, M A Preece, G E Moore

Journal: J. Med. Genet.. 2001 Dec;38(12):810-9.

 

The main features of Silver-Russell syndrome (SRS) are pre- and postnatal growth restriction and a characteristic small, triangular face. SRS is also accompanied by other dysmorphic features including fifth finger clinodactyly and skeletal asymmetry. The disorder is clinically and ...

Last Updated: 18 Dec 2001

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell Syndromes
 

Status: Recruiting

Condition Summary: Pregnant Women Requiring Amniocentesis

 

Last Updated: 23 Feb 2016

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