Chromosome 14 Ring
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Chromosome 14 Ring is not the name you expected.
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.
Associazione Internazionale Ring 14
- Via Lusenti 1-1
- 42121 Reggio Emilia, 42100
- Tel: 39 0522 421037
- Fax: 39 348 9500941
- Email: firstname.lastname@example.org
- Website: http://www.ring14.org
Chromosome Disorder Outreach, Inc.
- P.O. Box 724
- Boca Raton, FL 33429-0724
- Tel: (561)395-4252
- Fax: (561)395-4252
- Email: email@example.com
- Website: http://www.chromodisorder.org/
- 8301 Professional Place
- Landover, MD 20785-7223
- Tel: (866)330-2718
- Fax: (877)687-4878
- Tel: (800)332-1000
- Email: ContactUs@efa.org
- Website: http://www.epilepsyfoundation.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
- Website: http://rarediseases.info.nih.gov/GARD/
UNIQUE - Rare Chromosome Disorder Support Group
- G1 The Stables
- Station Road West
- Oxted, RH8 9EE
- United Kingdom
- Tel: 0044 (0)1883 723356
- Email: firstname.lastname@example.org
- Website: http://www.rarechromo.org/html/home.asp
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, 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.
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.
Last Updated: 4/10/2009
Copyright 2009 National Organization for Rare Disorders, Inc.
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