Important It is possible that the main title of the report Chromosome 18q- Syndrome 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 Long Arm Deletion Syndrome
Chromosome 18, Monosomy 18Q
Monosomy 18q Syndrome
18q Deletion Syndrome
Chromosome 18q- syndrome (also known as Chromosome 18, Monosomy 18q) is a rare chromosomal disorder in which there is deletion of part of the long arm (q) of chromosome 18. Associated symptoms and findings may vary greatly in range and severity from case to case. However, characteristic features include short stature; mental retardation; poor muscle tone (hypotonia); malformations of the hands and feet; and abnormalities of the skull and facial (craniofacial) region, such as a small head (microcephaly), a "carp-shaped" mouth, deeply set eyes, prominent ears, and/or unusually flat, underdeveloped midfacial regions (midfacial hypoplasia). Some affected individuals may also have visual abnormalities, hearing impairment, genital malformations, structural heart defects, and/or other physical abnormalities. Chromosome 18q- syndrome usually appears to result from spontaneous (de novo) errors very early during embryonic development that occur for unknown reasons (sporadically).
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
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
Lighthouse International 111 E 59th St New York, NY 10022-1202 Tel: (800)829-0500 Email: email@example.com Internet: http://www.lighthouse.org
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
National Association for Parents of Children with Visual Impairments (NAPVI) P.O. Box 317 Watertown, MA 02272-0317 Tel: (617)972-7441 Fax: (617)972-7444 Tel: (800)562-6265 Email: firstname.lastname@example.org Internet: http://www.napvi.org
Alexander Graham Bell Association for the Deaf and Hard of Hearing 3417 Volta Place NW Washington, DC 20007-2778 United States Tel: (202)337-5220 Fax: (202)337-8314 Tel: (866)337-5220 TDD: (202)337-5221 Email: email@example.com Internet: http://www.agbell.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/
Chromosome 18 Registry & Research Society 7155 Oakridge Drive San Antonio, TX 78229 Tel: (210)657-4968 Fax: (210)657-4968 Email: email@example.com Internet: http://www.chromosome18.org
American Heart Association 7272 Greenville Avenue Dallas, TX 75231 Tel: (214)784-7212 Fax: (214)784-1307 Tel: (800)242-8721 Email: Review.firstname.lastname@example.org Internet: http://www.heart.org
NIH/National Eye Institute 31 Center Dr MSC 2510 Bethesda, MD 20892-2510 United States Tel: (301)496-5248 Fax: (301)402-1065 Email: email@example.com Internet: http://www.nei.nih.gov/
NIH/National Institute on Deafness and Other Communication Disorders 31 Center Drive, MSC 2320 Communication Avenue Bethesda, MD 20892-3456 Tel: (301)402-0900 Fax: (301)907-8830 Tel: (800)241-1044 TDD: (800)241-1105 Email: firstname.lastname@example.org Internet: http://www.nidcd.nih.gov
UNIQUE - Rare Chromosome Disorder Support Group P.O. Box 2189 Caterham Surrey, CR3 5GN United Kingdom Tel: 4401883330766 Fax: 4401883330766 Email: email@example.com 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: firstname.lastname@example.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/
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".
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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
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Last Updated: 4/10/2009 Copyright 1993, 2001, 2009 National Organization for Rare Disorders, Inc.
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