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: 7 Nov 2013

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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: 7 Nov 2013

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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 48 free, full-text research articles on human participants. First 3 results:

Silver-Russell syndrome due to paternal H19/IGF2 hypomethylation in a twin girl born after in vitro fertilization.
 

Author(s): Guido Cocchi, Concetta Marsico, Anita Cosentino, Chiara Spadoni, Alessandro Rocca, Agostina De Crescenzo, Andrea Riccio

Journal: Am. J. Med. Genet. A. 2013 Oct;161(10):2652-5.

 

Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous syndrome characterized by severe intrauterine and postnatal growth retardation, facial dysmorphism and body asymmetry. One of the main molecular mechanisms leading to the syndrome involves methylation abnormalities ...

Last Updated: 30 Sep 2013

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Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome.
 

Author(s): Tomoko Fuke, Seiji Mizuno, Toshiro Nagai, Tomonobu Hasegawa, Reiko Horikawa, Yoko Miyoshi, Koji Muroya, Tatsuro Kondoh, Chikahiko Numakura, Seiji Sato, Kazuhiko Nakabayashi, Chiharu Tayama, Kenichiro Hata, Shinichiro Sano, Keiko Matsubara, Masayo Kagami, Kazuki Yamazawa, Tsutomu Ogata

Journal: PLoS ONE. 2013 ;8(3):e60105.

 

Recent studies have revealed relative frequency and characteristic phenotype of two major causative factors for Silver-Russell syndrome (SRS), i.e. epimutation of the H19-differentially methylated region (DMR) and uniparental maternal disomy 7 (upd(7)mat), as well as multilocus methylation ...

Last Updated: 27 Mar 2013

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Post-receptor IGF1 insensitivity restricted to the MAPK pathway in a Silver-Russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11.
 

Author(s): Luciana R Montenegro, Andrea C Leal, Debora C Coutinho, Helena P L Valassi, Mirian Y Nishi, Ivo J P Arnhold, Berenice B Mendonca, Alexander A L Jorge

Journal: Eur. J. Endocrinol.. 2012 Mar;166(3):543-50.

 

Hypomethylation of the paternal imprinting center region 1 (ICR1) is the most frequent molecular cause of Silver-Russell syndrome (SRS). Clinical evidence suggests that patients with this epimutation have mild IGF1 insensitivity.

Last Updated: 29 Feb 2012

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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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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: 14 Nov 2013

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Aromatase Inhibitor in Bone Maturation, Children With Silver Russell or Prader-Willi Syndrome
 

Status: Recruiting

Condition Summary: Silver Russell Syndrome; Prader-Willi Syndrome

 

Last Updated: 14 Nov 2013

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