Ring Chromosome 4

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Ring Chromosome 4 is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Ring chromosome 4 is a rare disorder that is typically characterized by loss (deletion) of genetic material from both ends of the 4th chromosome and joining of the chromosomal ends to form a ring. Associated symptoms and findings may vary greatly, depending on the location of lost genetic material and/or other factors. Some affected infants may have a low birth weight; growth retardation; delays in the acquisition of skills requiring the coordination of mental and physical activities (psychomotor retardation); an abnormally small head (microcephaly); a broad, "beaked" nose; and/or various additional physical abnormalities that are present at birth (congenital anomalies). However, cases have also been reported in which ring chromosome 4 is primarily associated with growth retardation, with no major physical anomalies and normal psychomotor development. Ring chromosome 4 is usually caused by spontaneous (de novo) errors very early in the development of the embryo that appear to occur randomly for unknown reasons (sporadically).

Supporting Organizations


PO Box 751112
Las Vegas, NV 89136
Tel: (702)769-9264
Fax: (702)341-5351
Tel: (888)486-1209
Email: info@ameriface.org
Website: http://www.ameriface.org

Children's Craniofacial Association

13140 Coit Road
Suite 517
Dallas, TX 75240
Tel: (214)570-9099
Fax: (214)570-8811
Tel: (800)535-3643
Email: contactCCA@ccakids.com
Website: http://www.ccakids.com

Chromosome Disorder Outreach, Inc.

P.O. Box 724
Boca Raton, FL 33429-0724
Tel: (561)395-4252
Fax: (561)395-4252
Email: info@chromodisorder.org
Website: http://www.chromodisorder.org/

Craniofacial Foundation of America

975 East Third Street
Chattanooga, TN 37403
Tel: (423)778-9176
Fax: (423)778-8172
Tel: (800)418-3223
Email: terry.smyth@erlanger.org
Website: http://www.craniofacialfoundation.org/www

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

March of Dimes

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Email: AskUs@marchofdimes.org or preguntas@nacersano.org
Website: http://www.marchofdimes.org and nacersano.org

NIH/National Kidney and Urologic Diseases Information Clearinghouse

3 Information Way
Bethesda, MD 20892-3580
Fax: (703)738-4929
Tel: (800)891-5390
Email: nkudic@info.niddk.nih.gov
Website: http://www.kidney.niddk.nih.gov/

The Arc

1825 K Street NW, Suite 1200
Washington, DC 20006
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
Email: info@thearc.org
Website: http://www.thearc.org

UNIQUE - Rare Chromosome Disorder Support Group

G1 The Stables
Station Road West
Oxted, RH8 9EE
United Kingdom
Tel: 0044 (0)1883 723356
Email: info@rarechromo.org
Website: http://www.rarechromo.org/html/home.asp

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

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.

Last Updated:  9/11/2014
Copyright  2014 National Organization for Rare Disorders, Inc.