Chromosome 6 Ring
National Organization for Rare Disorders, Inc.
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.
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).
Children's Craniofacial Association
13140 Coit Road
Dallas, TX 75240
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
111 E 59th St
New York, NY 10022-1202
1825 K Street NW, Suite 1200
Washington, DC 20006
P.O. Box 751112
Limekiln, PA 19535
National Association for Parents of Children with Visual Impairments (NAPVI)
P.O. Box 317
Watertown, MA 02272-0317
Chromosome Disorder Outreach, Inc.
P.O. Box 724
Boca Raton, FL 33429-0724
Spotlight 6 Deleted
2617 Ted Toad Road
Rising Sun, MD 21911
NIH/National Eye Institute
31 Center Dr
Bethesda, MD 20892-2510
UNIQUE - Rare Chromosome Disorder Support Group
P.O. Box 2189
Surrey, CR3 5GN
Craniofacial Foundation of America
975 East Third Street
Chattanooga, TN 37403
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Let Them Hear Foundation
1900 University Avenue, Suite 101
East Palo Alto, CA 94303
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 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. 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 firstname.lastname@example.org
Last Updated: 4/10/2009
Copyright 1992, 2001, 2003, 2009 National Organization for Rare Disorders, Inc.
Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.