Chromosome 18, Tetrasomy 18p
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Chromosome 18, Tetrasomy 18p 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.
Chromosome 18, Tetrasomy 18p is a very rare chromosomal disorder in which the short arm of the 18th chromosome (18p) appears four times (tetrasomy) rather than twice in cells of the body. Individuals with a normal chromosomal make-up (karyotype) have two 18th chromosomes, both of which have a short arm ("18p") and a long arm ("18q"). However, in individuals with Chromosome 18, Tetrasomy 18p, four short arms (18ps) are present in cells of the body rather than the normal two.
The symptoms of Chromosome 18, Tetrasomy 18p may vary from case to case. Many affected individuals may have abnormalities of the head and facial (craniofacial) area; malformations of the spine, hands, and/or feet; neuromuscular abnormalities, such as increased muscle tone (hypertonia), increased reflex reactions (hyperreflexia), and difficulty coordinating movement; kidney (renal) malformations; and/or additional physical abnormalities. In addition, children and adults with Chromosome 18, Tetrasomy 18p often exhibit moderate to severe mental retardation, limitations in speech, and/or behavioral abnormalities. In most cases, Chromosome 18, Tetrasomy 18p is the result of a spontaneous (de novo) genetic change (mutation) early in embryonic development that occurs for unknown reasons (sporadic).
Children's Craniofacial Association
13140 Coit Road
Dallas, TX 75240
Support Organization for Trisomy 18, 13, and Related Disorders
2982 S. Union Street
Rochester, NY 14624-1926
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
1825 K Street NW, Suite 1200
Washington, DC 20006
PO Box 751112
Las Vegas, NV 89136
Chromosome Disorder Outreach, Inc.
P.O. Box 724
Boca Raton, FL 33429-0724
National Kidney Foundation
30 East 33rd Street
New York, NY 10016
Chromosome 18 Registry & Research Society
7155 Oakridge Drive
San Antonio, TX 78229
NIH/National Kidney and Urologic Diseases Information Clearinghouse
3 Information Way
Bethesda, MD 20892-3580
UNIQUE - Rare Chromosome Disorder Support Group
The Rare Chromosome Disorder Support Group
G1 The Stables
Station Road West, Oxted
Surrey, RH8 9EE
Email: firstname.lastname@example.org or email@example.com
Craniofacial Foundation of America
975 East Third Street
Chattanooga, TN 37403
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tetrasomy 18p Canada
14 Deeth Drive, Unit A
Ontario, M9P 2J7
Email: Lorrine@tetrasomy18p.ca, Velvet@tetrasomy18p.ca
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 1996, 2001, 2009 National Organization for Rare Disorders, Inc.