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

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.

Last Updated: 1 Nov 2012

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

Last Updated: 15 Apr 2013

View Details
Logo
CNS Foundation

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

Last Updated: 12 Oct 2013

View Details
Logo
Down Syndrome Alabama

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

Last Updated: 20 Feb 2013

View Details
Logo
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

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.

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.

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.

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.

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

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.

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.

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.

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.

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.

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.

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..

Last Updated: 15 Apr 2013

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.

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.

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.

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.

Last Updated: 7 Mar 2013

View Details
werathah

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

Last Updated: 1 May 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

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 Nov 2012

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
Logo
CNS Foundation

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

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

View Details
Logo
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
Logo
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
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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

Go To URL
 
 
Top

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 984 free, full-text research articles on human participants. First 3 results:

Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries.
 

Author(s): Catarina Lundin, Erik Forestier, Mette Klarskov Andersen, Kirsi Autio, Gisela Barbany, Lucia Cavelier, Irina Golovleva, Sverre Heim, Kristiina Heinonen, Randi Hovland, Johann H Johannsson, Eigil Kjeldsen, Ann Nordgren, Lars Palmqvist, Bertil Johansson, , ,

Journal:

 

Children with Down syndrome (DS) have an increased risk for acute lymphoblastic leukemia (ALL). Although previous studies have shown that DS-ALL differs clinically and genetically from non-DS-ALL, much remains to be elucidated as regards genetic and prognostic factors in DS-ALL.

Last Updated: 3 Jun 2014

Go To URL
Unilateral morning glory optic disc anomaly in a case with Down syndrome.
 

Author(s): Ahmet Altun, Gulengul Altun, Sevda Aydin Kurna, Osman Okan Olcaysu, Suat Fazil Aki

Journal:

 

This case is unique because it is the first reported case of Down syndrome with morning glory optic disc anomaly in literature.

Last Updated: 17 Apr 2014

Go To URL
Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening.
 

Author(s): B Boyle, J K Morris, R McConkey, E Garne, M Loane, M C Addor, M Gatt, M Haeusler, A Latos-Bielenska, N Lelong, R McDonnell, C Mullaney, M O'Mahony, H Dolk

Journal: BJOG. 2014 Jun;121(7):809-19; discussion 820.

 

To determine risk of Down syndrome (DS) in multiple relative to singleton pregnancies, and compare prenatal diagnosis rates and pregnancy outcome.

Last Updated: 20 May 2014

Go To URL

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 87 free, full-text review articles on human participants. First 3 results:

Meeting at the crossroads: common mechanisms in Fragile X and Down syndrome.
 

Author(s): Karen T Chang, Hyunah Ro, Wei Wang, Kyung-Tai Min

Journal: Trends Neurosci.. 2013 Dec;36(12):685-94.

 

Intellectual disability is characterized by significantly impaired cognitive abilities and is due to various etiological factors, including both genetic and non-genetic causes. Two of the most common genetic forms of intellectual disability are Fragile X syndrome (FXS) and Down syndrome ...

Last Updated: 6 Dec 2013

Go To URL
[Recommendations for health care of people with Down syndrome from 0 to 18 years of age].
 

Author(s): Macarena Lizama C, Natalia Retamales M, Cecilia Mellado S

Journal: Rev Med Chil. 2013 Jan;141(1):80-9.

 

People born with Down syndrome have an increased risk of birth defects and are more vulnerable to certain illnesses. Health care for them should emphasize prevention, early diagnosis and early treatment of their most common health conditions. A healthy lifestyle promotes future physical ...

Last Updated: 4 Jun 2013

Go To URL
Concise review: new paradigms for Down syndrome research using induced pluripotent stem cells: tackling complex human genetic disease.
 

Author(s): James A Briggs, Elizabeth A Mason, Dmitry A Ovchinnikov, Christine A Wells, Ernst J Wolvetang

Journal: Stem Cells Transl Med. 2013 Mar;2(3):175-84.

 

Down syndrome (DS) is a complex developmental disorder with diverse pathologies that affect multiple tissues and organ systems. Clear mechanistic description of how trisomy of chromosome 21 gives rise to most DS pathologies is currently lacking and is limited to a few examples of ...

Last Updated: 12 Mar 2013

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

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: 25 Apr 2014

Go to URL
Nicotine Treatment of Cognitive Decline in Down Syndrome
 

Status: Recruiting

Condition Summary: Down Syndrome; Mild Cognitive Impairment

 

Last Updated: 16 Dec 2013

Go to URL
Down Syndrome and Continuous Positive Pressure Therapy
 

Status: Recruiting

Condition Summary: Down Syndrome; Obstructive Sleep Apnea Syndrome

 

Last Updated: 18 Oct 2012

Go to URL