Down syndrome

Common Name(s)

Down syndrome, Trisomy 21 syndrome, Complete

Down syndrome is a chromosome condition that is associated with intellectual disability, a characteristic facial appearance, and low muscle tone in infancy. The degree of intellectual disability varies from mild to moderate. People with Down syndrome may be born with a variety of health concerns, including heart defects or digestive abnormalities. In addition, they have an increased risk of developing gastroesophageal reflux, celiac disease, hypothyroidism, hearing and vision problems, leukemia, and Alzheimer disease. Down syndrome is caused by having three copies of chromosome 21, instead of the usual two copies. This condition occurs in about 1 in 800 newborns. Researchers have identified genes that cause some of the features of Down syndrome and are working to learn more in order to improve treatment options.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Down syndrome" for support, advocacy or research.

ACDS

ACDS is dedicated to providing lifetime resources of exceptional quality, innovation and inclusion for individuals with Down syndrome and other developmental disabilities and their families.

Last Updated: 29 Apr 2014

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Arc of the United States

The Arc promotes and protects the human rights of people with intellectual and developmental disabilities and actively supports their full inclusion and participation in the community throughout their lifetimes.

Last Updated: 1 Jun 2015

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Arc Wisconsin Disability Association, Inc.

The Arc-Wisconsin strives to be a major force in advocating and promoting self-determined quality of life opportunities for people with developmental and related disabilities and their families. This will be accomplished through: • Public policy and program design initiatives • Fiscal and program support to local chapters of the Arc • Substantially expanded resources, which are used efficiently and effectively in carrying out statewide and local programs • Advocacy for people with disabilities living in the community

Last Updated: 15 Apr 2013

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Down Syndrome Alabama

Promote Acceptance, Awareness and Advocacy for individuals with Down syndrome of all ages.

Last Updated: 20 Feb 2013

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Down Syndrome Association of Acadiana

The mission of the Down Syndrome Association of Acadiana (DSAA), a non-profit organization, is to provide information, advocacy and support concerning all aspects of life for individuals with Down syndrome, their families, and our community.

Last Updated: 24 Apr 2013

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Down Syndrome Association of Atlanta

The Down Syndrome Association of Atlanta (DSAA) is a non profit organization created to support individuals and families with Down syndrome, promote awareness and inclusion for people with Down syndrome and to raise money for research and education programs.

Last Updated: 28 Mar 2013

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Down Syndrome Association of Greater St. Louis

The mission of the Down Syndrome Association of Greater St. Louis is to benefit the lives of people with Down syndrome and their families through individual and family support, education, public awareness and advocacy.

Last Updated: 28 Mar 2013

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Down Syndrome Information Alliance

The Down Syndrome Information Alliance provides support and resources to empower individuals with Down syndrome, their families, and our community.

Last Updated: 1 Mar 2013

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Down Syndrome Research Foundation

The mission of the Down Syndrome Research Foundation is to empower individuals with Down syndrome to reach their full potential throughout life by pioneering and providing educational programs and services, grounded in foundational research. Working with researchers, professionals and families, we are a bridge between research and practice.

Last Updated: 29 Apr 2014

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Hope for Trisomy 13 and 18

OUR MISSION The mission of Hope For Trisomy is to 1) FUND RESEARCH for rare trisomies and related chromosome disorders; 2) PROMOTE EDUCATION by developing programs that educate parents of children with Trisomy about options available to their child and teach them how to advocate for their child to receive all available treatment; 3) RAISE AWARENESS by creating and contributing to materials, literature, workshops, seminars, and conferences to educate the medical health professionals, the parents, and the public about Trisomy, so they have accurate and current information and resources available

Last Updated: 7 Aug 2013

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Linda Crnic Institute for Down Syndrome

The mission of the Linda Crnic Institute for Down Syndrome is to significantly improve the lives of all people with Down syndrome, and to eradicate the medical and cognitive ill effects associated with Down syndrome.

Last Updated: 26 Oct 2012

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Massachusetts Down Syndrome Congress

To ensure individuals with Down syndrome in Massachusetts are valued, included, and given the opportunities to pursue fulfilling lives by providing information, networking opportunities, and advocacy for people with Down syndrome and their families, educators, health care professionals, and the community-at-large. The MDSC wants to be recognized by people with Down syndrome and their families, educators, health care professionals, and the community-at-large as the preeminent organization in Massachusetts for information, networking, and advocacy for and about Down syndrome.

Last Updated: 8 Jan 2013

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Missouri Family to Family

Missouri Family to Family provides customized information that allows families and individuals about needed resources and supports, navigating the maze of systems and services, as well as options to make their vision for their life possible. MOF2F also offers Sharing Our Strengths, which connects individuals with disabilities and/or their caregivers to a person who is available to listen with an open heart and open mind, offering emotional support, practical information, and/or shared experiences.

Last Updated: 15 Apr 2014

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National Down Syndrome Adoption Network

The mission of the NDSAN is to ensure that every child with Down syndrome has the opportunity to grow up in a loving family.

Last Updated: 30 Apr 2014

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National Down Syndrome Congress

The mission of the NDSC is to provide information, advocacy and support concerning all aspects of life for individuals with Down syndrome.

Last Updated: 8 Nov 2012

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National Down Syndrome Society

The National Down Syndrome Society's mission is to be the national advocate for the value, acceptance and inclusion of people with Down syndrome.

Last Updated: 9 May 2013

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Oklahoma Family Network

To Provide emotional, informational and navigational support to those who have special health care needs or a disability, their families and the professionals who serve them. OFN promotes family/professional partnerships and family-centered care, assuring services are offered as recipients prefer..

Last Updated: 15 Apr 2013

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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Rocky Mountain Down Syndrome Association

To assure inclusion and enhance independence of people with Down syndrome. We achieve this by providing education, resources and support in partnership with individuals, families, professionals, and the community.

Last Updated: 15 Apr 2014

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The Arc of East Central Iowa

The Arc of East Central Iowa empowers people with intellectual and related disabilities to engage in lifelong opportunities to live, learn, work and play with dignity, freedom and full inclusion in their communities.

Last Updated: 11 Apr 2013

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The Arc of Illinois

The Arc of Illinois is committed to empowering persons with disabilities to achieve full participation in community life through informed choices.

Last Updated: 8 Apr 2013

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The Arms of an Angel- Trisomy 18 Association

We are a 501 (c) (3) non-profit organization dedicated to the needs of families affected by the genetic disorder Trisomy 18. It is our mission to provide emotional and financial support to these special families. We will provide information to the community based upon mutual respect, comfort, and understanding, in an attempt to ease the suffering of those experiencing this painful journey. We will work diligently to answer questions that may arise for families of children with Trisomy 18, and provide up-to-date and pertinent information regarding this disorder.

Last Updated: 7 Mar 2013

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werathah

To provide support and health education to patients and their families with genetic and congenital disorders

Last Updated: 1 May 2013

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General Support Organizations

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How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Down syndrome" for support, advocacy or research.

ACDS

ACDS is dedicated to providing lifetime resources of exceptional quality, innovation and inclusion for individuals with Down syndrome and other developmental disabilities and their families.

http://www.acds.org

Last Updated: 29 Apr 2014

View Details
Logo
Arc of the United States

The Arc promotes and protects the human rights of people with intellectual and developmental disabilities and actively supports their full inclusion and participation in the community throughout their lifetimes.

http://www.thearc.org

Last Updated: 1 Jun 2015

View Details
Logo
Arc Wisconsin Disability Association, Inc.

The Arc-Wisconsin strives to be a major force in advocating and promoting self-determined quality of life opportunities for people with developmental and related disabilities and their families. This will be accomplished through: • Public policy and program design initiatives • Fiscal and program support to local chapters of the Arc • Substantially expanded resources, which are used efficiently and effectively in carrying out statewide and local programs • Advocacy for people with disabilities living in the community

http://www.arc-wisconsin.org

Last Updated: 15 Apr 2013

View Details
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Down Syndrome Alabama

Promote Acceptance, Awareness and Advocacy for individuals with Down syndrome of all ages.

http://www.downsyndromealabama.org

Last Updated: 20 Feb 2013

View Details
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Down Syndrome Association of Acadiana

The mission of the Down Syndrome Association of Acadiana (DSAA), a non-profit organization, is to provide information, advocacy and support concerning all aspects of life for individuals with Down syndrome, their families, and our community.

http://www.dsaa.info

Last Updated: 24 Apr 2013

View Details
Logo
Down Syndrome Association of Atlanta

The Down Syndrome Association of Atlanta (DSAA) is a non profit organization created to support individuals and families with Down syndrome, promote awareness and inclusion for people with Down syndrome and to raise money for research and education programs.

http://www.dsaatl.org

Last Updated: 28 Mar 2013

View Details
Logo
Down Syndrome Association of Greater St. Louis

The mission of the Down Syndrome Association of Greater St. Louis is to benefit the lives of people with Down syndrome and their families through individual and family support, education, public awareness and advocacy.

http://www.dsagsl.org

Last Updated: 28 Mar 2013

View Details
Logo
Down Syndrome Information Alliance

The Down Syndrome Information Alliance provides support and resources to empower individuals with Down syndrome, their families, and our community.

http://downsyndromeinfo.org/

Last Updated: 1 Mar 2013

View Details
Down Syndrome Research Foundation

The mission of the Down Syndrome Research Foundation is to empower individuals with Down syndrome to reach their full potential throughout life by pioneering and providing educational programs and services, grounded in foundational research. Working with researchers, professionals and families, we are a bridge between research and practice.

http://dsrf.org

Last Updated: 29 Apr 2014

View Details
Hope for Trisomy 13 and 18

OUR MISSION The mission of Hope For Trisomy is to 1) FUND RESEARCH for rare trisomies and related chromosome disorders; 2) PROMOTE EDUCATION by developing programs that educate parents of children with Trisomy about options available to their child and teach them how to advocate for their child to receive all available treatment; 3) RAISE AWARENESS by creating and contributing to materials, literature, workshops, seminars, and conferences to educate the medical health professionals, the parents, and the public about Trisomy, so they have accurate and current information and resources available

http://www.hopefortrisomy13and18.org

Last Updated: 7 Aug 2013

View Details
Linda Crnic Institute for Down Syndrome

The mission of the Linda Crnic Institute for Down Syndrome is to significantly improve the lives of all people with Down syndrome, and to eradicate the medical and cognitive ill effects associated with Down syndrome.

http://www.ucdenver.edu/academics/colleges/medicalschool/institutes/li ...

Last Updated: 26 Oct 2012

View Details
Massachusetts Down Syndrome Congress

To ensure individuals with Down syndrome in Massachusetts are valued, included, and given the opportunities to pursue fulfilling lives by providing information, networking opportunities, and advocacy for people with Down syndrome and their families, educators, health care professionals, and the community-at-large. The MDSC wants to be recognized by people with Down syndrome and their families, educators, health care professionals, and the community-at-large as the preeminent organization in Massachusetts for information, networking, and advocacy for and about Down syndrome.

http://www.mdsc.org

Last Updated: 8 Jan 2013

View Details
Logo
Missouri Family to Family

Missouri Family to Family provides customized information that allows families and individuals about needed resources and supports, navigating the maze of systems and services, as well as options to make their vision for their life possible. MOF2F also offers Sharing Our Strengths, which connects individuals with disabilities and/or their caregivers to a person who is available to listen with an open heart and open mind, offering emotional support, practical information, and/or shared experiences.

http://www.mofamilytofamily.org

Last Updated: 15 Apr 2014

View Details
National Down Syndrome Adoption Network

The mission of the NDSAN is to ensure that every child with Down syndrome has the opportunity to grow up in a loving family.

http://www.ndsan.org

Last Updated: 30 Apr 2014

View Details
National Down Syndrome Congress

The mission of the NDSC is to provide information, advocacy and support concerning all aspects of life for individuals with Down syndrome.

http://www.ndsccenter.org

Last Updated: 8 Nov 2012

View Details
National Down Syndrome Society

The National Down Syndrome Society's mission is to be the national advocate for the value, acceptance and inclusion of people with Down syndrome.

http://www.ndss.org

Last Updated: 9 May 2013

View Details
Logo
Oklahoma Family Network

To Provide emotional, informational and navigational support to those who have special health care needs or a disability, their families and the professionals who serve them. OFN promotes family/professional partnerships and family-centered care, assuring services are offered as recipients prefer..

http://www.oklahomafamilynetwork.org

Last Updated: 15 Apr 2013

View Details
Logo
Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

View Details
Logo
Rocky Mountain Down Syndrome Association

To assure inclusion and enhance independence of people with Down syndrome. We achieve this by providing education, resources and support in partnership with individuals, families, professionals, and the community.

http://www.rmdsa.org/

Last Updated: 15 Apr 2014

View Details
The Arc of East Central Iowa

The Arc of East Central Iowa empowers people with intellectual and related disabilities to engage in lifelong opportunities to live, learn, work and play with dignity, freedom and full inclusion in their communities.

http://www.arceci.org

Last Updated: 11 Apr 2013

View Details
The Arc of Illinois

The Arc of Illinois is committed to empowering persons with disabilities to achieve full participation in community life through informed choices.

http://www.thearcofil.org/

Last Updated: 8 Apr 2013

View Details
The Arms of an Angel- Trisomy 18 Association

We are a 501 (c) (3) non-profit organization dedicated to the needs of families affected by the genetic disorder Trisomy 18. It is our mission to provide emotional and financial support to these special families. We will provide information to the community based upon mutual respect, comfort, and understanding, in an attempt to ease the suffering of those experiencing this painful journey. We will work diligently to answer questions that may arise for families of children with Trisomy 18, and provide up-to-date and pertinent information regarding this disorder.

http://www.trisomy18dallas.org

Last Updated: 7 Mar 2013

View Details
werathah

To provide support and health education to patients and their families with genetic and congenital disorders

http://www.werathah.com

Last Updated: 1 May 2013

View Details

 

General Support Organizations

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General Resources

A Loving Choice: Making an Adoption Plan for a Child with Down Syndrome

This booklet is for birth families who are considering adoption for their child with Down syndrome

Updated 15 Feb 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Down syndrome" returned 1024 free, full-text research articles on human participants. First 3 results:

The influence of moderate-intensity physical effort on peripheral blood in adults with Down syndrome - a pilot study.
 

Author(s): P Aleksander-Szymanowicz, A Marchewka, Z Dabrowski, A Teleglow, A Bac, J Glodzik

Journal: J. Physiol. Pharmacol.. 2014 Oct;65(5):733-8.

 

The aim of this study was to evaluate the influence of a six-week aerobic training on peripheral blood in adults with Down syndrome. Fifteen men with Down syndrome (average age 22.4 years ± 0.91) with moderate or severe intellectual disability took part in the study. Patients underwent ...

Last Updated: 5 Nov 2014

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Immune-mediated protein-losing enteropathy with Down syndrome.
 

Author(s): Sohachi Nanjo, Jun Nishikawa, Shigeharu Miwa, Hiroshi Mihara, Haruka Fujinami, Hiroki Yoshita, Akira Ueda, Shinya Kajiura, Yushi Hasumoto, Takayuki Ando, Ayumu Hosokawa, Toshiro Sugiyama

Journal: Intern. Med.. 2014 ;53(20):2301-5.

 

A 28-year-old woman previously diagnosed to have Down syndrome presented with a one-month history of severe hypoalbuminemia, lower extremity edema, and diarrhea. Her urine was negative for protein. She was diagnosed with immune-mediated protein-losing enteropathy (PLE) based on clinical ...

Last Updated: 16 Oct 2014

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Fish odor syndrome (trimethylaminuria) supporting the possible FMO3 down expression in childhood: a case report.
 

Author(s): Rosalia D'Angelo, Concetta Scimone, Teresa Esposito, Daniele Bruschetta, Carmela Rinaldi, Alessia Ruggeri, Antonina Sidoti

Journal:

 

Trimethylaminuria is a rare inherited disorder due to decreased metabolism of dietary-derived trimethylamine by flavin-containing monooxygenase 3. Several single nucleotide polymorphisms of the flavin-containing monooxygenase 3 gene have been described and result in an enzyme with ...

Last Updated: 9 Oct 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Down syndrome" returned 92 free, full-text review articles on human participants. First 3 results:

Thyroid dysfunction in Indian children with Down syndrome.
 

Author(s): Devi Dayal, Puneet Jain, Inusha Panigrahi, Anish Bhattacharya, Naresh Sachdeva

Journal: Indian Pediatr. 2014 Sep;51(9):751-2.

 

This record review of 82 children with Down Syndrome (DS) between April 2004 and March 2014 who had thyroid dysfunction, showed that majority (76, 92.6%) had subclinical hypothyroidism. Of the 60 patients who underwent radionuclide scan, 63.3% had a normal gland; the rest exhibited ...

Last Updated: 17 Sep 2014

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Unraveling the complexity of neurodegeneration in brains of subjects with Down syndrome: insights from proteomics.
 

Author(s): Marzia Perluigi, Fabio Di Domenico, D Allan Buttterfield

Journal: Proteomics Clin Appl. 2014 Feb;8(1-2):73-85.

 

Down syndrome (DS) is one of the most common genetic causes of intellectual disability characterized by multiple pathological phenotypes, among which neurodegeneration is a key feature. The neuropathology of DS is complex and likely results from impaired mitochondrial function, increased ...

Last Updated: 21 Mar 2014

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GABAA receptor subtypes: Therapeutic potential in Down syndrome, affective disorders, schizophrenia, and autism.
 

Author(s): Uwe Rudolph, Hanns Möhler

Journal: Annu. Rev. Pharmacol. Toxicol.. 2014 ;54():483-507.

 

The γ-aminobutyric acid (GABA) system plays a pivotal role in orchestrating the synchronicity of local networks and the functional coupling of different brain regions. Here we review the impact of the GABAA receptor subtypes on cognitive and emotional behavior, paying particular ...

Last Updated: 7 Jan 2014

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Down Syndrome Metabolic Health Study
 

Status: Recruiting

Condition Summary: Down Syndrome; Trisomy 21

 

Last Updated: 4 May 2015

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Nicotine Treatment of Cognitive Decline in Down Syndrome
 

Status: Recruiting

Condition Summary: Down Syndrome; Mild Cognitive Impairment

 

Last Updated: 16 Dec 2013

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Down Syndrome and Continuous Positive Pressure Therapy
 

Status: Recruiting

Condition Summary: Down Syndrome; Obstructive Sleep Apnea Syndrome

 

Last Updated: 18 Oct 2012

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