Important It is possible that the main title of the report Chromosome 14 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.
Ring Chromosome 14
Chromosome 14 Ring is a rare disorder that is characterized by abnormalities of the 14th chromosome. Affected infants and children typically have delays in the acquisition of skills that require the coordination of physical and mental activities (psychomotor delays), mental retardation, growth delays, and episodes of uncontrolled electrical activity in the brain (seizures). The disorder is also characterized by distinctive abnormalities of the head and facial (craniofacial) area. Such abnormalities may include an unusually small head (microcephaly) with a high forehead; an elongated face; widely spaced eyes (ocular hypertelorism); a thin upper lip; a flat nasal bridge with a prominent nasal tip; and large, low-set ears.
Chromosome Disorder Outreach, Inc. P.O. Box 724 Boca Raton, FL 33429-0724 USA Tel: (561)395-4252 Fax: (561)395-4252 Email: firstname.lastname@example.org Internet: http://www.chromodisorder.org/CDO/
Epilepsy Foundation 8301 Professional Place Landover, MD 20785-7223 Tel: (866)330-2718 Fax: (877)687-4878 Tel: (800)332-1000 TDD: (800)332-2070 Email: ContactUs@efa.org Internet: http://www.epilepsyfoundation.org
UNIQUE - Rare Chromosome Disorder Support Group P.O. Box 2189 Caterham Surrey, CR3 5GN United Kingdom Tel: 4401883330766 Fax: 4401883330766 Email: email@example.com Internet: http://www.rarechromo.org
Associazione Internazionale Ring 14 Via V. M. Hugò nr. 34 Reggio Emilia, 42100 Italy Tel: 390522421037 Fax: 393408681962 Email: firstname.lastname@example.org Internet: http://www.ring14.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/
Madisons Foundation PO Box 241956 Los Angeles, CA 90024 Tel: (310)264-0826 Fax: (310)264-4766 Email: email@example.com Internet: http://www.madisonsfoundation.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 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 1993, 1994, 2000, 2001, 2002, 2003, 2004, 2009 National Organization for Rare Disorders, Inc.
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