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 Read about events on Capitol Hill, funding for rare-disease research, and other topics of interest from NORD's office in Washington, DC.
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information, we encourage you to contact your personal physician or the agencies listed as
"Resources" on this report.
Copyright 1984, 1985, 1987, 1988, 1990, 1992, 1996, 1997, 1998, 1999, 2000, 2002, 2003, 2008
NORD is very grateful to the National Down Syndrome Society for assistance in the preparation of this report.
Synonyms of Down Syndrome
- Chromosome 21, Mosaic 21 Syndrome
- Chromosome 21, Translocation 21 Syndrome
- Trisomy 21 Syndrome
- Trisomy G Syndrome
Disorder Subdivisions
General Discussion
Down syndrome is a chromosomal condition in which all or a portion of chromosome 21 appears three times (trisomy) rather than twice in cells of the body. In some affected individuals, only a percentage of cells may contain the chromosomal condition (mosaicism).
Symptoms and findings may vary greatly in range and degree, depending on the specific length and location of the duplicated (trisomic) portion of chromosome 21 as well as the percentage of cells containing the condition. However, in many affected individuals, such characteristics may include low muscle tone (hypotonia); a tendency to keep the mouth open with protrusion of the tongue; and distinctive facial characteristics including a short, small head (microbrachycephaly), upwardly slanting eyelid folds (palpebral fissures), a depressed nasal bridge, a small nose, and a relatively flat facial profile. Individuals with Down syndrome may also have unusually small, misshapen (dysplastic) ears; a narrow roof of the mouth (palate); vertical skin folds covering the inner corners of the eyes (epicanthal folds); dental abnormalities; and excessive skin on the back of the neck. Other characteristics include unusually short arms and legs; short fingers; and unusual skin ridge patterns (dermatoglyphics) on the fingers, palms, and toes. Individuals with Down syndrome may also have short stature, poor coordination, mild to severe intellectual disability, and hearing impairment.
In some cases, Down syndrome may also be characterized by structural malformations of the heart at birth (congenital heart defects). In addition, those with the condition may have an increased susceptibility to respiratory disease (e.g., pneumonia), other infectious diseases, and malignancies in which there is an increased proliferation of certain white blood cells (leukemia). Rarely do these conditions lead to potentially life-threatening complications.
Organizations related to Down Syndrome
- ANDO (Apoyo al Nino Down)
Dept. of Medical Genetics, Children's Hospital
111 Michigan Ave
Washington DC 20010
Phone #: 202-884-2187
800 #: N/A
e-mail: curuburo@cnmc.org
Home page: N/A
- Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org/
- Association for Children with Down Syndrome, Inc.
4 Fern Place
Plainview NY 11803
Phone #: 516-933-4700
800 #: --
e-mail: msmith@acds.org
Home page: http://www.acds.org
- Birth Defect Research for Children, Inc.
800 Celebration Ave, Suite 225
Orlando FL 34747
Phone #: 407-566-8304
800 #: --
e-mail: staff@birthdefects.org
Home page: http://www.birthdefects.org
- Child Neurology Foundation
2000 West 98th Street
Bloomington MN 55431
Phone #: 952-641-6100
800 #: 800-263-5430
e-mail: jstone@childneurologyfoundation.org
Home page: http://www.childneurologyfoundation.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- International Mosaic Down Syndrome Association
PO Box 1052
Franklin TX 77856
Phone #: 979-828-4177
800 #: 888-637-5465
e-mail: president@imdsa.org
Home page: http://www.imdsa.org/
- MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
MSC2425
Bethesda MD 20892
Phone #: 301-496-5133
800 #: --
e-mail: N/A
Home page: http://www.nichd.nih.gov/
- National Center for Down's Syndrome
9 Westbourne Road
EDG Baston
Birmingham None B-15
Phone #: 021-454-3126
800 #: --
e-mail: N/A
Home page: N/A
- National Consortium on Deaf-Blindness (NCDB)
The Teaching Research Institute
Western Oregon University
345 N. Monmouth Ave.
Monmouth OR 97361
Phone #: 800-438-9376
800 #: 800-438-9376
e-mail: info@nationaldb.org
Home page: http://www.nationaldb.org
- National Down Syndrome Congress
1370 Center Drive
Suite 102
Atlanta GA 30338
Phone #: 770-604-9500
800 #: 800-232-6372
e-mail: info@ndsccenter.org
Home page: http://www.ndsccenter.org
- National Down Syndrome Society
666 Broadway
8th Floor
New York NY 10012-2317
Phone #: 212-460-9330
800 #: 800-221-4602
e-mail: info@ndss.org
Home page: http://www.ndss.org/
- National Foundation for Celiac Awareness
P.O. Box 544
Ambler PA 19002
Phone #: 215-325-1306
800 #: N/A
e-mail: info@CeliacCentral.org
Home page: http://www.CeliacCentral.org
- National Institute of Mental Retardation
York University
Kinsmen NIMR Building
4700 Keele Street
North York, Toronto
Ontario None M3J 1P3
Phone #: 416-661-9611
800 #: --
e-mail: N/A
Home page: N/A
- New Horizons Un-Limited, Inc.
811 East Wisconsin Ave
Suite 937
Milwaukee WI 53202
Phone #: 414-299-0124
800 #: N/A
e-mail: horizons@new-horizons.org
Home page: http://www.new-horizons.org
- PHP - Parents Helping Parents, Inc.
Sobrato Center For Nonprofits-San Jose
1400 Parkmoor Avenue
Suite 100
Sant Jose CA 95126
Phone #: 408-727-5775
800 #: 866-747-4040
e-mail: info@php.com
Home page: http://www.php.com
- PLAN Institute for Caring Citizenship
260-3665 Kingsway
Vancouver
British Columbia None V5R 5W2
Phone #: 604--43-9-9566
800 #: N/A
e-mail: inquiries@planinstitute.ca
Home page: http://www.planinstitute.ca/?q=learnfromus/library
- Perkins School for the Blind
175 North Beacon St.
Watertown MA 02472
Phone #: 617-924-3434
800 #: N/A
e-mail: Info@Perkins.org
Home page: http://www.Perkins.org
- R.O.C.K. (Raising Our Celiac Kids)
3527 Fortuna Ranch Rd
Encinitas CA 92024
Phone #: 858-395-5421
800 #: N/A
e-mail: info@celiackids.com
Home page: http://www.celiackids.com
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