ImportantIt is possible that the main title of the report Down 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.
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.
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.comThe Arc 1660 L Street, NW, Suite 301 Washington, DC 20036 Tel: (202)534-3700 Fax: (202)534-3731 Tel: (800)433-5255 TDD: (817)277-0553 Email: email@example.com Internet: http://www.thearc.orgNational Down Syndrome Congress 1370 Center Drive Suite 102 Atlanta, GA 30338- USA Tel: (770)604-9500 Fax: (770)604-9898 Tel: (800)232-6372 Email: firstname.lastname@example.org Internet: http://www.ndsccenter.orgNational Down Syndrome Society 666 Broadway 8th Floor New York, NY 10012-2317 USA Fax: (212)979-2873 Tel: (800)221-4602 Email: email@example.com Internet: http://www.ndss.org/PHP - Parents Helping Parents, Inc. Sobrato Center For Nonprofits San Jose 1400 Parkmoor Avenue, Suite 100 Santa Clara, CA 95126 USA Tel: (408)727-5775 Fax: (408)286-1116 Tel: (866)747-4040 Email: firstname.lastname@example.org Internet: http://www.php.comAssociation for Children with Down Syndrome, Inc. 4 Fern Place Plainview, NY 11803 Tel: (516)933-4700 Fax: (516)933-9524 Email: email@example.com Internet: http://www.acds.orgNIH/National Institute of Child Health and Human Development 31 Center Dr Building 31, Room 2A32 MSC2425 Bethesda, MD 20892 Fax: (866)760-5947 Tel: (800)370-2943 TDD: (888)320-6942 Email: NICHDInformationResourceCenter@mail.nih.gov Internet: http://www.nichd.nih.gov/Birth Defect Research for Children, Inc. 976 Lake Baldwin Lane Orlando, FL 32814 USA Tel: (407)895-0802 Fax: (407)895-0824 Email: firstname.lastname@example.org Internet: http://www.birthdefects.orgInternational Mosaic Down Syndrome Association PO Box 1052 Franklin, TX 77856 Tel: (979)828-4177 Fax: (775)295-9373 Tel: (888)637-5465 Email: email@example.com Internet: http://www.imdsa.org/MUMS National Parent-to-Parent Network 150 Custer Court Green Bay, WI 54301-1243 USA Tel: (920)336-5333 Fax: (920)339-0995 Tel: (877)336-5333 Email: firstname.lastname@example.org Internet: http://www.netnet.net/mums/R.O.C.K. (Raising Our Celiac Kids) 3527 Fortuna Ranch Rd Encinitas, CA 92024 USA Tel: (858)395-5421 Fax: (858)756-0431 Email: email@example.com Internet: http://www.celiackids.comNew Horizons Un-Limited, Inc. 811 East Wisconsin Ave P.O. Box 510034 Milwaukee, WI 53203 USA Tel: (414)299-0124 Fax: (414)347-1977 Email: firstname.lastname@example.org Internet: http://www.new-horizons.orgGenetic 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/Madisons Foundation PO Box 241956 Los Angeles, CA 90024 Tel: (310)264-0826 Fax: (310)264-4766 Email: email@example.com Internet: http://www.madisonsfoundation.orgANDO (Apoyo al Nino Down) Dept. of Medical Genetics, Children's National Medical Center 111 Michigan Avenue Suite 1950 Washington, DC 20010 Tel: (202)476-5793 Fax: (202)476-2390 Email: firstname.lastname@example.orgNational Foundation for Celiac Awareness P.O. Box 544 224 South Maple Street Ambler, PA 19002 Tel: (215)325-1306 Fax: (215)643-1707 Email: email@example.com Internet: http://www.CeliacCentral.orgPerkins School for the Blind 175 North Beacon Street Watertown, MA 02472 Tel: (617)924-3434 Fax: (617)926-2027 Email: Info@Perkins.org Internet: http://www.Perkins.orgNational Consortium on Deaf-Blindness The Teaching Research Institute 345 N. Monmouth Avenue Monmouth, OR 97361 Tel: (800)438-9376 Fax: (503)838-8150 Tel: (800)438-9376 TDD: (800)854-7013 Email: firstname.lastname@example.org Internet: http://www.nationaldb.orgPLAN Institute for Caring Citizenship Suite 260 - 3665 Kingsway Vancouver British Columbia, V5R 5W2 Canada Tel: 604-439-9566 Fax: 604-439-7001 Email: email@example.com Internet: http://www.planinstitute.ca/?q=learnfromus/libraryChild Neurology Foundation 2000 West 98th Street Bloomington, MN 55431 USA Tel: (952)641-6100 Fax: (952)881-6276 Tel: (877)263-5430 Email: firstname.lastname@example.org Internet: http://www.childneurologyfoundation.orgMedical Home Portal Dept. of Pediatrics University of Utah P.O. Box 581289 Salt Lake City, UT 84158 Tel: (801)587-9978 Fax: (801)581-3899 Email: email@example.com Internet: http://www.medicalhomeportal.org
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 reportThis 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 firstname.lastname@example.orgLast Updated: 9/25/2008Copyright 1984, 1985, 1987, 1988, 1990, 1992, 1996, 1997, 1998, 1999, 2000, 2002, 2003, 2008 National Organization for Rare Disorders, Inc.
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 email@example.com
Last Updated: 9/25/2008Copyright 1984, 1985, 1987, 1988, 1990, 1992, 1996, 1997, 1998, 1999, 2000, 2002, 2003, 2008 National Organization for Rare Disorders, Inc.
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