Chromosome 18q- Syndrome

Content provided by National Organization for Rare Disorders

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.

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: 2145709099

Fax: 2145708811

Tel: 8005353643

Email: csmith@ccakids.com

Internet: http://www.ccakids.com



National Association for Visually Handicapped

22 West 21st Street

New York, NY 10010

USA

Tel: 2128893141

Fax: 2127272931

Email: staff@navh.org

Internet: 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

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: 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

Tel: (800)433-5255

TDD: (817)277-0553

Email: info@thearc.org

Internet: http://www.thearc.org/



AmeriFace

PO Box 751112

Las Vegas, NV 89136

USA

Tel: 7027699264

Fax: 7023415351

Tel: 8884861209

Email: info@ameriface.org

Internet: 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

Tel: (800)562-6265

Email: napvi@perkins.org

Internet: http://www.napvi.org



Alexander Graham Bell Association for the Deaf, Inc.

3417 Volta Place, NW

Washington, D.C. 20007-2778

United States

Tel: 2023375220

Fax: 2023378314

Tel: 8663375220

Email: info@agbell.org

Internet: http://www.agbell.org



Chromosome Disorder Outreach, Inc.

P.O. Box 724

Boca Raton, FL 33429-0724

USA

Tel: 5613954252

Fax: 5613954252

Email: info@chromodisorder.org

Internet: http://www.chromodisorder.org



Chromosome 18 Registry & Research Society

7155 Oakridge Drive

San Antonio, TX 78229

Tel: (210)657-4968

Fax: (210)657-4968

Email: office@chromosome18.org

Internet: http://www.chromosome18.org



American Heart Association

National Center

7272 Greenville Avenue

Dallas, TX 75231-4596

Tel: (214)373-6300

Fax: (214)373-0268

Tel: (800)242-8721

Email: inquire@heart.org

Internet: 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

Email: chaser@compuserve.com

Internet: 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: 3014965248

Fax: 3014021065

Email: 2020@nei.nih.gov

Internet: 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

Tel: (800)241-1044

TDD: (800)241-1105

Email: nidcdinfo@nidcd.nih.gov

Internet: 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

Email: info@rarechromo.org

Internet: http://www.rarechromo.org



Craniofacial Foundation of America

975 East Third Street

Chattanooga, TN 37403

Tel: (423)778-9192

Fax: (423)778-8172

Tel: (800)418-3223

Email: farmertm@erlanger.org

Internet: 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: 9203365333

Fax: 9203390995

Tel: 8773365333

Email: mums@netnet.net

Internet: 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:  5/30/2008

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

Last updated:	May 30, 2008