Chromosome 18q- Syndrome

Important
It is possible that the main title of the report Chromosome 18q- Syndromeis not the name you expected.

Synonyms

18q- Syndrome
Chromosome 18 Long Arm Deletion Syndrome
Chromosome 18, Monosomy 18Q
Monosomy 18q Syndrome
Del(18q) Syndrome
18q Deletion Syndrome

Disorder Subdivisions

None

General Discussion

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).
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Resources

Children's Craniofacial Association
13140 Coit Road
Suite 517
Dallas
TX
75240
USA
Tel: (214)570-9099
Fax: (214)570-8811
800: (800)535-3643
csmith@ccakids.com
http://www.ccakids.com

National Association for Visually Handicapped
22 West 21st Street
New York
NY
10010
USA
Tel: (212)889-3141
Fax: (212)727-2931
staff@navh.org
http://www.navh.org

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains
NY
10605
Tel: (914)428-7100
Fax: (914)997-4763
800: (888)663-4637
Askus@marchofdimes.com
http://www.marchofdimes.com

The Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring
MD
20910
Tel: (301)565-3842
Fax: (301)565-3843
800: (800)433-5255
TDD: (817)277-0553
info@thearc.org
http://www.thearc.org/

AmeriFace
PO Box 751112
Las Vegas
NV
89136
USA
Tel: (702)769-9264
Fax: (702)341-5351
800: (888)486-1209
info@ameriface.org
http://www.ameriface.org

National Association for Parents of Children with Visual Impairments (NAPVI)
P.O. Box 317
Watertown
MA
02472
Tel: (617)972-7441
Fax: (617)972-7444
800: (800)562-6265
napvi@perkins.org
http://www.napvi.org

Alexander Graham Bell Association for the Deaf, Inc.
3417 Volta Place, NW
Washington
D.C.
20007-2778
United States
Tel: (202)337-5220
Fax: (202)337-8314
800: (866)337-5220
info@agbell.org
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
info@chromodisorder.org
http://www.chromodisorder.org

Chromosome 18 Registry & Research Society
7155 Oakridge Drive
San Antonio
TX
78229
Tel: (210)657-4968
Fax: (210)657-4968
office@chromosome18.org
http://www.chromosome18.org

American Heart Association
National Center
7272 Greenville Avenue
Dallas
TX
75231-4596
Tel: (214)373-6300
Fax: (214)373-0268
800: (800)242-8721
inquire@heart.org
http://www.americanheart.org

Congenital Heart Anomalies, Support, Education, & Resources
2112 North Wilkins Road
Swanton
OH
43558
Tel: (419)825-5575
Fax: (419)825-2880
chaser@compuserve.com
http://www.csun.edu/~hcmth011/chaser/chaser-news.html

NIH/National Eye Institute
Building 31 Rm 6A32
31 Center Dr MSC 2510
Bethesda
MD
20892-2510
United States
Tel: (301)496-5248
Fax: (301)402-1065
2020@nei.nih.gov
http://www.nei.nih.gov/

NIH/Nat'l Institute on Deafness & Other Communication Disorders Information Clearinghouse
1 Communication Ave
Bethesda
MD
20892-3456
Tel: (301)402-0900
Fax: (301)907-8830
800: (800)241-1044
TDD: (800)241-1105
nidcdinfo@nidcd.nih.gov
http://www.nidcd.nih.gov

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
info@rarechromo.org
http://www.rarechromo.org

Craniofacial Foundation of America
975 East Third Street
Chattanooga
TN
37403
Tel: (423)778-9192
Fax: (423)778-8172
800: (800)418-3223
farmertm@erlanger.org
http://www.craniofacialcenter.com

MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay
WI
54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
http://www.netnet.net/mums/

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 1993, 2001, 2009 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: April 10, 2009

This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.