Chromosome 4, Trisomy 4p
Important
It is possible that the main title of the report Chromosome 4, Trisomy 4p 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.
Synonyms
- Chromosome 4, Partial Trisomy 4p
- Duplication 4p Syndrome
- Dup(4p) Syndrome
Disorder Subdivisions
- None
General Discussion
Chromosome 4, Trisomy 4p is a rare chromosomal disorder in which all or a portion of the short arm (p) of chromosome 4 appears three times (trisomy) rather than twice in cells of the body. Associated symptoms and physical findings may vary greatly in range and severity from case to case. Such variability may depend upon the specific length and location of the duplicated (trisomic) portion of chromosome 4p as well as other factors. However, many affected infants may have feeding and breathing difficulties, characteristic malformations of the head and facial (craniofacial) area, and abnormalities of the hands and feet. Additional features may include other skeletal defects, genital abnormalities in affected males, or heart (cardiac) defects. Trisomy 4p is also characterized by severe mental retardation.
Resources
Children's Craniofacial Association
13140 Coit Road
Suite 517
Dallas, TX 75240
USA
Tel: (214)570-9099
Fax: (214)570-8811
Tel: (800)535-3643
Email: contactCCA@ccakids.com
Internet: http://www.ccakids.com
Support Organization for Trisomy 18, 13, and Related Disorders
2982 S. Union Street
Rochester, NY 14624-1926
Fax: (585)594-1957
Tel: (800)716-7638
Email: barbv@trisomy.org
Internet: http://www.trisomy.org
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com
The Arc
1660 L Street, NW, Suite 301
Washington, DC 20036
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org
AmeriFace
Post Office Box 751112
Limekiln, PA 19535
USA
Tel: (702)769-9264
Fax: (702)341-5351
Tel: (888)486-1209
Email: info@ameriface.org
Internet: http://www.ameriface.org
American Heart Association
8200 Brookriver Drive
Suite N-100
Dallas, TX 75247
Tel: (214)784-7212
Fax: (214)784-1307
Tel: (800)242-8721
Email: Review.personal.info@heart.org
Internet: http://www.americanheart.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
Craniofacial Foundation of America
975 East Third Street
Chattanooga, TN 37403
Tel: (423)778-9176
Fax: (423)778-8172
Tel: (800)418-3223
Email: terry.smyth@erlanger.org
Internet: http://www.craniofacialfoundation.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/AboutGARD.aspx
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 �1994, 2000, 2001, 2003, 2009�National Organization for Rare Disorders, Inc.
WebMD Medical Reference from the National Organization of Rare Disorders
Today on WebMD
Health Solutions From Our Sponsors
©2005-2013 WebMD, LLC. All rights reserved.
WebMD does not provide medical advice, diagnosis or treatment. See additional information.