Important
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.
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Resources
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com
The Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring, MD 20910
Tel: (301)565-3842
Fax: (301)565-3843
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org/
Chromosome Deletion Outreach, Inc.
P.O. Box 724
Boca Raton, FL 33429-0724
USA
Tel: 5613954252
Fax: 5613954252
Email: info@chromodisorder.org
Internet: http://www.chromodisorder.org
UNIQUE - Rare Chromosome Disorder Support Group
P.O. Box 2189
Caterham
Surrey, Intl CR3 5GN
United Kingdom
Tel: 44 0 1883 330766
Fax: 44 0 1883 330766
Email: info@rarechromo.org
Internet: http://www.rarechromo.org
Ring Chromosome 22 E-Mail Discussion List
609 West Minnesota Street
St. Joseph, MN 56374
USA
Tel: 3202711720
Email: r22-request@maelstrom.stjohns.edu
Internet: http://maelstrom.stjohns.edu/archives/r22.html
Chromosome 22 Central
237 Kent Ave
Timmins
Ontario, Intl P4N 3C2
Canada
Tel: 7052683099
Email: a815@c22c.org
Internet: http://www.c22c.org
