Important
It is possible that the main title of the report Chromosome 14 Ringis not the name you expected.
Synonyms
- r14
- Ring 14
- Ring Chromosome 14
General Discussion
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.
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Resources
Chromosome Disorder 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
Epilepsy Foundation
4351 Garden City Drive
Landover, MD 20785
Tel: (301)459-3700
Fax: (301)577-2684
Tel: (800)332-1000
TDD: (800)332-2070
Email: postmaster@efa.org
Internet: http://www.epilepsyfoundation.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
Associazione Internazionale Ring 14 (Ring 14 International Support Group)
Via Victor Marie Hugo nr. 34
Reggio Emilia, Intl 42100
Italy
Tel: 0039 0522 322607
Fax: 0039 0522 324835
Email: info@ring14.com
Internet: http://www.ring14.com
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: 9203365333
Fax: 9203390995
Tel: 8773365333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders, Inc. (r) (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html
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: 5/21/2008
Copyright 1993, 1994, 2000, 2001, 2002, 2003, 2004National Organization for Rare Disorders, Inc.
