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Chromosome 6 Ring

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Chromosome 6 Ring 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

  • Ring 6
  • Ring 6, Chromosome
  • r6

Disorder Subdivisions

  • None

General Discussion

Chromosome 6 Ring is a rare disorder in which there is loss (deletion) of chromosomal material from both ends of the 6th chromosome and joining of the ends to form a ring. Associated symptoms and findings may vary greatly, depending upon the amount and location of lost chromosomal material and other factors. For example, there have been some reported cases in which children with Chromosome 6 Ring have few physical abnormalities and normal intelligence. However, many with the chromosomal abnormality are affected by growth retardation; varying degrees of mental retardation; mild to severe delays in the acquisition of skills requiring the coordination of mental and physical activities (psychomotor retardation); and/or various abnormalities of the skull and facial (craniofacial) region. Such craniofacial features often include an unusually small head (microcephaly), malformed or low-set ears, and/or a small jaw (micrognathia). Eye (ocular) defects are also relatively common, such as drooping of the upper eyelids (ptosis), unusually small eyes (microphthalmia), abnormal deviation of one eye in relation to the other (strabismus), and/or other findings. Chromosome 6 Ring usually appears to result from spontaneous (de novo) errors very early in the development of the embryo that occur for unknown reasons (sporadically).

Resources

Children's Craniofacial Association

13140 Coit Road

Suite 517

Dallas, TX 75240

USA

Tel: (214)570-9099

Fax: (214)570-8811

Tel: (800)535-3643

Email: contactCCA@ccakids.com

Internet: http://www.ccakids.com



March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



Lighthouse International

111 E 59th St

New York, NY 10022-1202

Tel: (800)829-0500

Email: info@lighthouse.org

Internet: http://www.lighthouse.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



AmeriFace

P.O. Box 751112

Limekiln, PA 19535

USA

Tel: (702)769-9264

Fax: (702)341-5351

Tel: (888)486-1209

Email: info@ameriface.org

Internet: http://www.ameriface.org



National Association for Parents of Children with Visual Impairments (NAPVI)

P.O. Box 317

Watertown, MA 02272-0317

Tel: (617)972-7441

Fax: (617)972-7444

Tel: (800)562-6265

Email: napvi@perkins.org

Internet: http://www.napvi.org



Chromosome Disorder Outreach, Inc.

P.O. Box 724

Boca Raton, FL 33429-0724

USA

Tel: (561)395-4252

Fax: (561)395-4252

Email: info@chromodisorder.org

Internet: http://www.chromodisorder.org/CDO/



Spotlight 6 Deleted

2617 Ted Toad Road

Rising Sun, MD 21911

Tel: (410)658-6264



NIH/National Eye Institute

31 Center Dr

MSC 2510

Bethesda, MD 20892-2510

United States

Tel: (301)496-5248

Fax: (301)402-1065

Email: 2020@nei.nih.gov

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



UNIQUE - Rare Chromosome Disorder Support Group

P.O. Box 2189

Caterham

Surrey, CR3 5GN

United Kingdom

Tel: 4401883330766

Fax: 4401883330766

Email: info@rarechromo.org

Internet: http://www.rarechromo.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

Internet: http://www.craniofacialfoundation.org



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/



Let Them Hear Foundation

1900 University Avenue, Suite 101

East Palo Alto, CA 94303

Tel: (650)462-3174

Fax: (650)462-3144

Email: info@letthemhear.org

Internet: http://www.letthemhear.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:  4/10/2009

Copyright  1992, 2001, 2003, 2009 National Organization for Rare Disorders, Inc.

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