Important 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.
Tetrasomy, Short Arm of Chromosome 18
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 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: email@example.com 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 1825 K Street NW, Suite 1200 Washington, DC 20006 Tel: (202)534-3700 Fax: (202)534-3731 Tel: (800)433-5255 TDD: (817)277-0553 Email: firstname.lastname@example.org Internet: http://www.thearc.org
AmeriFace P.O. Box 751112 Limekiln, PA 19535 USA Tel: (702)769-9264 Fax: (702)341-5351 Tel: (888)486-1209 Email: email@example.com Internet: http://www.ameriface.org
Chromosome Disorder Outreach, Inc. P.O. Box 724 Boca Raton, FL 33429-0724 USA Tel: (561)395-4252 Fax: (561)395-4252 Email: firstname.lastname@example.org Internet: http://www.chromodisorder.org/CDO/
National Kidney Foundation 30 East 33rd Street New York, NY 10016 Tel: (212)889-2210 Fax: (212)689-9261 Tel: (800)622-9010 Email: email@example.com Internet: http://www.kidney.org
Chromosome 18 Registry & Research Society 7155 Oakridge Drive San Antonio, TX 78229 Tel: (210)657-4968 Fax: (210)657-4968 Email: firstname.lastname@example.org Internet: http://www.chromosome18.org
NIH/National Kidney and Urologic Diseases Information Clearinghouse 3 Information Way Bethesda, MD 20892-3580 Fax: (703)738-4929 Tel: (800)891-5390 TDD: (866)569-1162 Email: email@example.com Internet: http://www.kidney.niddk.nih.gov/
UNIQUE - Rare Chromosome Disorder Support Group P.O. Box 2189 Caterham Surrey, CR3 5GN United Kingdom Tel: 4401883330766 Fax: 4401883330766 Email: firstname.lastname@example.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: email@example.com 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/
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.
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