Down Syndrome

Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 21st chromosome, either in whole (Trisomy 21) or in part (such as due to translocations). The effects of the extra copy vary greatly among people, depending on the extent of the extra copy, genetic history and pure chance. In 2007, the American College of Obstetricians and Gynecologists (ACOG) endorsed guidelines that offer risk assessment to all pregnancies for fetal chromosomal abnormalities, including Down syndrome. It is estimated that approximately 70%, or 2.8 million, women undergo Down syndrome screening in the United States each year.

What is Down Syndrome?

Down syndrome or Down's syndrome, is a congenital condition that usually causes some degree of learning disability and is typically characterized by certain physical features.

Down Syndrome Research

Down Syndrome and Other Diseases

Down Syndrome Complications

Down Syndrome Symptoms

Down Syndrome Epidemiology

Down Syndrome History

Down Syndrome Screening

Gene Targets for in Utero Therapy in Down Syndrome: Potentials and Pitfalls

Down Syndrome Management

Down Syndrome in Society

Down Syndrome and Leukemia

Latest Down Syndrome News and Research

Nuclear binding protein identified as key contributor to trisomy 21-related CHDs

Three copies of chromosome 21 causes Down syndrome (DS), and roughly half of children born each year in the United States with DS-approximately 2,600-also have congenital heart defects (CHDs).

22 Oct 2025

HMGN1 gene linked to heart problems in people with Down syndrome

Nearly half of all babies born with Down syndrome face congenital heart defects, often involving serious malformations that require surgery in the first months of life.

22 Oct 2025

Restoring pleiotrophin shows promise for improving brain function in Down syndrome

Faulty brain circuits seen in Down syndrome may be caused by the lack of a particular molecule essential for the development and function of the nervous system, new research suggests.

17 Oct 2025

Study links high neuroinflammation in young people with Down Syndrome to Alzheimer's risk

Down syndrome is associated with accelerated aging. It is estimated that up to 90% of individuals with the condition develop Alzheimer's disease before the age of 70. A study by researchers at the University of São Paulo (USP) in Brazil identified high levels of neuroinflammation in young individuals with Down syndrome, an additional factor explaining the high prevalence of Alzheimer's disease in older people with the condition. The discovery paves the way for strategies to prevent and monitor the disease.

3 Oct 2025

Researchers uncover how chromosome crossovers protect fertility

When a woman becomes pregnant, the outcome of that pregnancy depends on many things - including a crucial event that happened while she was still growing inside her own mother's womb.

24 Sep 2025

Lifespan study reveals age-specific biological changes in Down Syndrome

In a groundbreaking new study published in Nature Communications, researchers from the Linda Crnic Institute for Down Syndrome (Crnic Institute) at the University of Colorado Anschutz discovered important differences in the physiological changes observed in over 300 individuals with Down syndrome across the lifespan.

24 Sep 2025

Adults with both Down Syndrome and congenital heart defects show remarkable resilience

Adults with both Down Syndrome and congenital heart defects, also known as congenital heart disease (CHD), are showing remarkable resilience despite facing significant medical challenges, according to a new MUSC study in Pediatric Cardiology.

19 Sep 2025

Montana advocates worry about federal impacts on support for students with disabilities

Tucker Jette lives for gaming, but like so many other recent high school graduates, he's had to come to terms with the reality that he can't make a living playing video games.

17 Sep 2025

Gene expression maps explain why diseases often occur together

This study reveals how gene expression patterns uncover molecular pathways linking comorbidities, enhancing treatment strategies for overlapping diseases.

5 Sep 2025

Faster progression to severe diabetes observed in people with learning disabilities

People with learning disabilities progress faster to severe type 2 diabetes and are at greater risk of dying from their condition than people without these disabilities, suggests research published in the open access journal BMJ Open Diabetes Research & Control.

2 Sep 2025

Researchers reveal how diseases interact at the genetic level

2 Sep 2025

Women with Down syndrome show more advanced Alzheimer's signs at diagnosis

According to research by the University of California, Irvine, women with Down syndrome have more advanced signs of Alzheimer's disease than men do at the average age of diagnosis, which is the same for both sexes.

12 Aug 2025

Alzheimer’s risk factors look different for men and women

Research on Alzheimer's risk factors shows significant sex differences, with implications for diagnosis and treatment in early-onset and late-onset cases.

6 Aug 2025

Hypoglossal nerve stimulator shows promise for treating sleep apnea in children with Down syndrome

Sleep apnea, or difficulty breathing at night, is common among children with Down syndrome-affecting up to 80% compared to just 5% of the general pediatric population.

5 Aug 2025

Johns Hopkins uncovers protein's unexpected role in brain signaling

Researchers at Johns Hopkins Medicine say they unexpectedly found new information about a protein's special role in getting brain cells to communicate at the right time and place in experiments with genetically engineered mice.

4 Aug 2025

Proteome imbalance from aneuploidy linked to mitochondrial dysfunction

It has been known for several years that abnormal chromosome numbers lead to protein imbalances in the affected cells. Researchers at RPTU have now investigated the detailed effects of such imbalances.

27 Jun 2025

Study finds high levels of iron in the brains of people diagnosed with Down syndrome and Alzheimer's

Scientists at the USC Leonard Davis School of Gerontology have discovered a key connection between high levels of iron in the brain and increased cell damage in people who have both Down syndrome and Alzheimer's disease.

19 Jun 2025

New QR4 model identifies hidden risk factors in cardiovascular disease

Collaborative research, led from the University of Oxford and published today in Nature Medicine, has developed a new tool called QR4 that more accurately predicts an individual's 10-year risk of cardiovascular diseases, like heart disease and stroke, particularly identifying high-risk patients that current prediction tools miss.

9 May 2025

Study finds increased risk of age-related cardiovascular diseases in individuals with Down syndrome

Because life expectancy for individuals with Down syndrome has increased dramatically, investigators assessed the risk of age-related cardiovascular diseases in this population.

7 May 2025

Brain stimulation at 40Hz boosts memory and neurogenesis in Down syndrome mice

Study provides new evidence that sensory stimulation of gamma-frequency brain rhythm may promote broad-based restorative neurological health response.

25 Apr 2025

Down Syndrome

Overview

Down Syndrome Research

Down Syndrome and Other Diseases

Down Syndrome Complications

Feature Articles

Down Syndrome Symptoms

Down Syndrome Epidemiology

Down Syndrome History

Down Syndrome Screening

Gene Targets for in Utero Therapy in Down Syndrome: Potentials and Pitfalls

Down Syndrome Management

Down Syndrome in Society

Down Syndrome and Leukemia

Latest Down Syndrome News and Research

Nuclear binding protein identified as key contributor to trisomy 21-related CHDs

HMGN1 gene linked to heart problems in people with Down syndrome

Restoring pleiotrophin shows promise for improving brain function in Down syndrome

Study links high neuroinflammation in young people with Down Syndrome to Alzheimer's risk

Researchers uncover how chromosome crossovers protect fertility

Lifespan study reveals age-specific biological changes in Down Syndrome

Adults with both Down Syndrome and congenital heart defects show remarkable resilience

Montana advocates worry about federal impacts on support for students with disabilities

Gene expression maps explain why diseases often occur together

Faster progression to severe diabetes observed in people with learning disabilities

Researchers reveal how diseases interact at the genetic level

Women with Down syndrome show more advanced Alzheimer's signs at diagnosis

Alzheimer’s risk factors look different for men and women

Hypoglossal nerve stimulator shows promise for treating sleep apnea in children with Down syndrome

Johns Hopkins uncovers protein's unexpected role in brain signaling

Proteome imbalance from aneuploidy linked to mitochondrial dysfunction

Study finds high levels of iron in the brains of people diagnosed with Down syndrome and Alzheimer's

New QR4 model identifies hidden risk factors in cardiovascular disease

Study finds increased risk of age-related cardiovascular diseases in individuals with Down syndrome

Brain stimulation at 40Hz boosts memory and neurogenesis in Down syndrome mice

The future of automation: Machine learning–driven hepatocyte and organoid counting

From street to lab: Advancing controlled substance testing with handheld Raman and FTIR

Reimagining light scattering for biotherapeutics

Down Syndrome

Overview

Feature Articles

Down Syndrome Symptoms

Down Syndrome Epidemiology

Down Syndrome History

Down Syndrome Screening

Gene Targets for in Utero Therapy in Down Syndrome: Potentials and Pitfalls

Down Syndrome Management

Down Syndrome in Society

Down Syndrome and Leukemia

Latest Down Syndrome News and Research

The future of automation: Machine learning–driven hepatocyte and organoid counting

From street to lab: Advancing controlled substance testing with handheld Raman and FTIR

Reimagining light scattering for biotherapeutics

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