Chromosome 18q- Syndrome
National Organization for Rare Disorders, Inc.
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.
- 18q- Syndrome
- Chromosome 18 Long Arm Deletion Syndrome
- Chromosome 18, Monosomy 18Q
- Monosomy 18q Syndrome
- Del(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
Dallas, TX 75240
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
111 E 59th St
New York, NY 10022-1202
1825 K Street NW, Suite 1200
Washington, DC 20006
P.O. Box 751112
Limekiln, PA 19535
National Association for Parents of Children with Visual Impairments (NAPVI)
P.O. Box 317
Watertown, MA 02272-0317
Alexander Graham Bell Association for the Deaf and Hard of Hearing
3417 Volta Place NW
Washington, DC 20007-2778
Chromosome Disorder Outreach, Inc.
P.O. Box 724
Boca Raton, FL 33429-0724
Chromosome 18 Registry & Research Society
7155 Oakridge Drive
San Antonio, TX 78229
American Heart Association
7272 Greenville Avenue
Dallas, TX 75231
NIH/National Eye Institute
31 Center Dr
Bethesda, MD 20892-2510
NIH/National Institute on Deafness and Other Communication Disorders
31 Center Drive, MSC 2320
Bethesda, MD 20892-3456
UNIQUE - Rare Chromosome Disorder Support Group
P.O. Box 2189
Surrey, CR3 5GN
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
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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.
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Last Updated: 4/10/2009
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