Chromosome 14 Ring

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

Disorder Subdivisions

None

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: (561)395-4252
Fax: (561)395-4252
info@chromodisorder.org
http://www.chromodisorder.org

Epilepsy Foundation
4351 Garden City Drive
Landover
MD
20785
Tel: (301)459-3700
Fax: (301)577-2684
800: (800)332-1000
TDD: (800)332-2070
postmaster@efa.org
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
info@rarechromo.org
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
info@ring14.com
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: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
http://www.netnet.net/mums/

For a Complete Report:

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (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: 4/10/2009
Copyright 1993, 1994, 2000, 2001, 2002, 2003, 2004, 2009 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: April 10, 2009

This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.