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Russell Silver Syndrome (RSS)

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Russell Silver Syndrome (RSS) is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • RSS
  • Russell-Silver dwarfism
  • Russell syndrome
  • Silver-Russell dwarfism
  • Silver-Russell syndrome
  • Silver syndrome
  • SRS

Disorder Subdivisions

  • None

General Discussion

Summary

Russell-Silver syndrome (RSS) is a rare disorder characterized by intrauterine growth retardation and postnatal growth deficiency along with a handful of common physical characteristics and a range of other symptoms. The wide spectrum of phenotype findings vary both in incidence rate and severity from one individual to another. Besides prenatal and postnatal growth retardation, the most common characteristics are normal head circumference (appearing large for the body), a large forehead that protrudes out from the plane of the face, a triangular-shaped face, a pinky that is fixed or "locked" in a bent position (clinodactyly), lack of appetite/low BMI, and undergrowth of one side or limb(s) of the body (hemihypotrophy), resulting in unequal (asymmetric) growth. The majority of children with RSS fall within the normal range of intelligence, but are more likely to have motor and speech delays. Intervention at an early age (infancy) is critical. Some evidence indicates that there may be neurodevelopmental differences between the different genetic causes of RSS. RSS is genetically heterogeneous, meaning that different genetic abnormalities are believed to cause the disorder. Abnormalities affecting certain genes on chromosomes 7 or 11 have been found in up to 60% of RSS patients, leaving approximately 40% of patients where the underlying cause of RSS is not known.



Introduction

This syndrome was independently identified by H.K. Silver in 1953 and A. Russell in 1954. In the early medical literature, the term Silver syndrome had been used to denote a child with low birth weight, overgrowth of one side (in fact, undergrowth) of the body (lateral asymmetry), and clinodactyly, whereas the term Russell syndrome had been used to denote a similar condition without asymmetry. However, most researchers now consider Russell-Silver syndrome one disease entity. The disorder is usually called Russell-Silver syndrome in the United States and Silver-Russell syndrome in Europe

Resources

Human Growth Foundation

997 Glen Cove Avenue

Suite 5

Glen Head, NY 11545

Tel: (516)671-4041

Fax: (516)671-4055

Tel: (800)451-6434

Email: hgf1@hgfound.org

Internet: http://www.hgfound.org/



MAGIC Foundation

6645 W. North Avenue

Oak Park, IL 60302

Tel: (708)383-0808

Fax: (708)383-0899

Tel: (800)362-4423

Email: mary@magicfoundation.org

Internet: http://www.magicfoundation.org



The Arc

1825 K Street NW, Suite 1200

Washington, DC 20006

Tel: (202)534-3700

Fax: (202)534-3731

Tel: (800)433-5255

TDD: (817)277-0553

Email: info@thearc.org

Internet: http://www.thearc.org



Little People of America, Inc.

250 El Camino Real Suite 201

Tustin, CA 92780

Tel: (714)368-3689

Fax: (714)368-3367

Tel: (888)572-2001

Email: info@lpaonline.org

Internet: http://www.lpaonline.org/



Restricted Growth Association

PO Box 5137

Yeovil, BA20 9FF

United Kingdom

Tel: 03001111970

Fax: 03001112454

Email: office@restrictedgrowth.co.uk

Internet: http://www.restrictedgrowth.co.uk



NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse

One AMS Circle

Bethesda, MD 20892-3675

USA

Tel: (301)495-4484

Fax: (301)718-6366

Tel: (877)226-4267

TDD: (301)565-2966

Email: NIAMSinfo@mail.nih.gov

Internet: http://www.niams.nih.gov/



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to MyD-H, the Dartmouth-Hitchcock patient portal. You must be a registered MyD-H user for the Lebanon, Manchester, or Nashua locations to access this site.

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  4/10/2013

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