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Chromosome 22 Ring

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Chromosome 22 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 22
  • Ring 22, Chromosome
  • r(22)

Disorder Subdivisions

  • None

General Discussion

Chromosome 22 Ring is a rare disorder characterized by abnormalities of the 22nd chromosome. Associated symptoms and findings may be extremely variable from case to case. However, the disorder is typically associated with moderate to severe mental retardation. Some affected individuals may also have relatively mild, nonspecific physical (i.e., dysplastic) features, whereas others may have more distinctive, potentially severe physical abnormalities. According to reports in the medical literature, common findings include diminished muscle tone (hypotonia) and motor incoordination; an unsteady manner of walking (gait); pronounced verbal delays; and/or certain malformations of the skull and facial (craniofacial) region. Such craniofacial abnormalities may include an unusually small head (microcephaly); vertical skin folds that may cover the eyes' inner corners (epicanthal folds); unusually large ears; and/or other malformations. Chromosome 22 Ring is usually caused by spontaneous or "de novo" errors very early in the development of the embryo that appear to occur randomly for unknown reasons.

Resources

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



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



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/



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



Chromosome 22 Central

c/o Murney Rinholm

7108 Partinwood Drive

Fuquay-Varina, NC 27526

USA

Tel: (919)567-8167

Email: murney.rinholm@c22c.org

Internet: http://www.c22c.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/



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, 2000, 2003, 2009 National Organization for Rare Disorders, Inc.

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