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"Down syndrome is a condition in which a person has an extra copy of chromosome 21.

Chromosomes are small "packages" of genes in the body's cells, which determine how the body forms and functions.

When babies are growing, the extra chromosome changes how their body and brain develop."

source

Centers for Disease Control and Prevention. (2024a, December 26). Down Syndrome. Birth Defects; CDC. https://www.cdc.gov/birth-defects/about/down-syndrome.html

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Down syndrome is a genetic condition where a person is born with an extra chromosome.

This can affect how their brain and body develop.

People diagnosed with Down syndrome can lead healthy lives with supportive care.

What it is

Down syndrome is a condition in which a person has an extra copy of chromosome 21. Chromosomes are small "packages" of genes in the body's cells, which determine how the body forms and functions.

When babies are growing, the extra chromosome changes how their body and brain develop. This can cause both physical and mental challenges.

People with Down syndrome often have developmental challenges, such as being slower to learn to speak than other children.

Distinct physical signs of Down syndrome are usually present at birth and become more apparent as the baby grows. They can include facial features, such as:

A flattened face, especially the bridge of the nose

Almond-shaped eyes that slant up

A tongue that tends to stick out of the mouth

Other physical signs can include:

A short neck

Small ears, hands, and feet

A single line across the palm of the hand (palmar crease)

Small pinky fingers

Poor muscle tone or loose joints

Shorter-than-average height

Some people with Down syndrome have other medical problems as well. Common health problems include:

Congenital heart defects

Hearing loss

Obstructive sleep apnea

Down syndrome is the most common chromosomal condition diagnosed in the United States. Each year, about 5,700 babies born in the US have Down syndrome.

Types

There are three types of Down syndrome. The physical features and behaviors are similar for all three types.

Trisomy 21

With Trisomy 21, each cell in the body has three separate copies of chromosome 21. About 95% of people with Down syndrome have Trisomy 21.

Translocation Down syndrome

In this type, an extra part or a whole extra chromosome 21 is present. However, the extra chromosome is attached or "trans-located" to a different chromosome rather than being a separate chromosome 21. This type accounts for about 3% of people with Down syndrome.

Mosaic Down syndrome

Mosaic means mixture or combination. In this type, some cells have three copies of chromosome 21, but other cells have the typical two copies. People with mosaic Down syndrome may have fewer features of the condition. This type accounts for about 2% of people with Down syndrome.

Risk factors

We do not know for sure why Down syndrome occurs or how many different factors play a role. We do know that some things can affect your risk of having a baby with Down syndrome.

One factor is your age when you get pregnant. The risk of having a baby with Down syndrome increases with age. This is especially the case if you are 35 years or older when you get pregnant.

However, the majority of babies with Down syndrome are still born to mothers less than 35 years old. This is because there are many more births among younger women.

Parents with one child with Down syndrome have a higher chance of having another child with Down syndrome regardless of age.

Screening and diagnosis

There are two types of tests available to detect Down syndrome during pregnancy: screening tests and diagnostic tests. A screening test can tell you if your pregnancy has a higher chance of being affected Down syndrome. Screening tests do not provide an absolute diagnosis.

Diagnostic tests can typically detect if a baby will have Down syndrome, but they carry more risk. Neither screening nor diagnostic tests can predict the full impact of Down syndrome on a baby.

Resources

The views of these organizations are their own and do not reflect the official position of CDC.

Down Syndrome Resource Foundation (DSRF): The DSRF supports people living with Down syndrome and their families with individualized and leading-edge educational programs, health services, information resources, and rich social connections so each person can flourish in their own right.

GiGi's Playhouse: GiGi's Playhouse provides free educational, therapeutic-based, and career development programs for individuals with Down syndrome, their families, and the community, through a replicable playhouse model.

Global Down Syndrome Foundation: This foundation is dedicated to significantly improving the lives of people with Down syndrome through research, medical care, education and advocacy.

National Association for Down Syndrome: The National Association for Down Syndrome supports all persons with Down syndrome in achieving their full potential. They seek to help families, educate the public, address social issues and challenges, and facilitate active participation.

National Down Syndrome Society (NDSS): NDSS seeks to increase awareness and acceptance of those with Down syndrome.

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Down syndrome is a condition in which a person has an extra chromosome 21.

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Human Rights Organization for Individuals with Down syndrome

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The Importance of Balance for People With Down Syndrome

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Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21, a condition also known as trisomy 21. This additional genetic material impacts the physical and cognitive development of individuals. One of the specific challenges individuals with Down syndrome may face because of these developmental hurdles is balance. In this article, […]

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Overview

Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. This extra genetic material causes the developmental changes and physical features of Down syndrome.

Down syndrome varies in severity among individuals, causing lifelong intellectual disability and developmental delays. It's the most common genetic chromosomal disorder and cause of learning disabilities in children. It also commonly causes other medical abnormalities, including heart and gastrointestinal disorders.

Better understanding of Down syndrome and early interventions can greatly increase the quality of life for children and adults with this disorder and help them live fulfilling lives.

Symptoms

Each person with Down syndrome is an individual - intellectual and developmental problems may be mild, moderate or severe. Some people are healthy while others have significant health problems such as serious heart defects.

Children and adults with Down syndrome have distinct facial features. Though not all people with Down syndrome have the same features, some of the more common features include:

Flattened face

Small head

Short neck

Protruding tongue

Upward slanting eye lids (palpebral fissures)

Unusually shaped or small ears

Poor muscle tone

Broad, short hands with a single crease in the palm

Relatively short fingers and small hands and feet

Excessive flexibility

Tiny white spots on the colored part (iris) of the eye called Brushfield's spots

Short height

Infants with Down syndrome may be average size, but typically they grow slowly and remain shorter than other children the same age.

Intellectual disabilities

Most children with Down syndrome have mild to moderate cognitive impairment. Language is delayed, and both short and long-term memory is affected.

When to see a doctor

Children with Down syndrome usually are diagnosed before or at birth. However, if you have any questions regarding your pregnancy or your child's growth and development, talk with your doctor.

Causes

Human cells normally contain 23 pairs of chromosomes. One chromosome in each pair comes from your father, the other from your mother.

Down syndrome results when abnormal cell division involving chromosome 21 occurs. These cell division abnormalities result in an extra partial or full chromosome 21. This extra genetic material is responsible for the characteristic features and developmental problems of Down syndrome. Any one of three genetic variations can cause Down syndrome:

Trisomy 21. About 95 percent of the time, Down syndrome is caused by trisomy 21 - the person has three copies of chromosome 21, instead of the usual two copies, in all cells. This is caused by abnormal cell division during the development of the sperm cell or the egg cell.

Mosaic Down syndrome. In this rare form of Down syndrome, a person has only some cells with an extra copy of chromosome 21. This mosaic of normal and abnormal cells is caused by abnormal cell division after fertilization.

Translocation Down syndrome. Down syndrome can also occur when a portion of chromosome 21 becomes attached (translocated) onto another chromosome, before or at conception. These children have the usual two copies of chromosome 21, but they also have additional genetic material from chromosome 21 attached to another chromosome.

There are no known behavioral or environmental factors that cause Down syndrome.

Is it inherited?

Most of the time, Down syndrome isn't inherited. It's caused by a mistake in cell division during early development of the fetus.

Translocation Down syndrome can be passed from parent to child. However, only about 3 to 4 percent of children with Down syndrome have translocation and only some of them inherited it from one of their parents.

When balanced translocations are inherited, the mother or father has some rearranged genetic material from chromosome 21 on another chromosome, but no extra genetic material. This means he or she has no signs or symptoms of Down syndrome, but can pass an unbalanced translocation on to children, causing Down syndrome in the children.

Risk factors

Some parents have a greater risk of having a baby with Down syndrome. Risk factors include:

Advancing maternal age. A woman's chances of giving birth to a child with Down syndrome increase with age because older eggs have a greater risk of improper chromosome division. A woman's risk of conceiving a child with Down syndrome increases after 35 years of age. However, most children with Down syndrome are born to women under age 35 because younger women have far more babies.

Being carriers of the genetic translocation for Down syndrome. Both men and women can pass the genetic translocation for Down syndrome on to their children.

Having had one child with Down syndrome. Parents who have one child with Down syndrome and parents who have a translocation themselves are at an increased risk of having another child with Down syndrome. A genetic counselor can help parents assess the risk of having a second child with Down syndrome.

Complications

People with Down syndrome can have a variety of complications, some of which become more prominent as they get older. These complications can include:

Heart defects. About half the children with Down syndrome are born with some type of congenital heart defect. These heart problems can be life-threatening and may require surgery in early infancy.

Gastrointestinal (GI) defects. GI abnormalities occur in some children with Down syndrome and may include abnormalities of the intestines, esophagus, trachea and anus. The risk of developing digestive problems, such as GI blockage, heartburn (gastroesophageal reflux) or celiac disease, may be increased.

Immune disorders. Because of abnormalities in their immune systems, people with Down syndrome are at increased risk of developing autoimmune disorders, some forms of cancer, and infectious diseases, such as pneumonia.

Sleep apnea. Because of soft tissue and skeletal changes that lead to the obstruction of their airways, children and adults with Down syndrome are at greater risk of obstructive sleep apnea.

Obesity. People with Down syndrome have a greater tendency to be obese compared with the general population.

Spinal problems. Some people with Down syndrome may have a misalignment of the top two vertebrae in the neck (atlantoaxial instability). This condition puts them at risk of serious injury to the spinal cord from overextension of the neck.

Leukemia. Young children with Down syndrome have an increased risk of leukemia.

Dementia. People with Down syndrome have a greatly increased risk of dementia - signs and symptoms may begin around age 50. Having Down syndrome also increases the risk of developing Alzheimer's disease.

Other problems. Down syndrome may also be associated with other health conditions, including endocrine problems, dental problems, seizures, ear infections, and hearing and vision problems.

For people with Down syndrome, getting routine medical care and treating issues when needed can help with maintaining a healthy lifestyle.

Life expectancy

Life spans have increased dramatically for people with Down syndrome. Today, someone with Down syndrome can expect to live more than 60 years, depending on the severity of health problems.

Prevention

There's no way to prevent Down syndrome. If you're at high risk of having a child with Down syndrome or you already have one child with Down syndrome, you may want to consult a genetic counselor before becoming pregnant.

A genetic counselor can help you understand your chances of having a child with Down syndrome. He or she can also explain the prenatal tests that are available and help explain the pros and cons of testing.

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Down syndrome is a genetic disorder caused when abnormal cell division results in extra genetic material from chromosome 21.

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There is no cure for people with Down Syndrome, however specific symptoms and problems caused by Down Syndrome can be treated.

treatment will depend on your child's needs

As your child grows older and enters different stages of life, their needs for care and services may change

For people with Down syndrome, ongoing services, including healthcare, education, and life skills support, throughout life.

source

Mayo Clinic. (2024a, November 12). Down Syndrome. Mayo Clinic; Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-20355977

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Flattened face and small nose with a flat bridge.

Small head.

Short neck.

Tongue that tends to stick out of the mouth.

Upward slanting eyelids.

Skin fold of the upper eyelid that covers the inner corner of the eye.

Small, rounded ears.

Wide, small hands with a single crease in the palm and short fingers.

Small feet with a space between the first and second toes.

Tiny white spots on the colored part of the eye called the iris. These white spots are called Brushfield's spots.

Short height.

Poor muscle tone in infancy.

Joints that are loose and too flexible.

Source

Mayo Clinic. (2024a, November 12). Down Syndrome. Mayo Clinic; Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-20355977

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Yoga and Tai Chi: These exercises improve balance and flexibility.

Dance Therapy: It enhances coordination and rhythm.

Swimming: Swimming builds muscle strength and endurance.

Occupational Therapy: OT focuses on improving daily living skills.

Physical Therapy: Tailored exercises enhance motor skills and balance.

Biking: Learning to ride a Strider bike is a great way to help individuals with Down syndrome improve their balance and have fun while doing it.

source

Buchholz, N. (2024a, January 9). The Importance of Balance for People with Down Syndrome. All Kids Bike. https://allkidsbike.org/blog/the-importance-of-balance-for-people-with-down-syndrome/?gad_source=1&gclid=CjwKCAjw7pO_BhAlEiwA4pMQvErOBc2MeH9irb7aMPMHbCb3nzIiXGiiQgU71gBh0gMcCBOcgBFd_hoCxcwQAvD_BwE

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each cell in the body has three separate copies of chromosome 21

95% of people with down syndrome have this type

source

Centers for Disease Control and Prevention. (2024a, December 26). Down Syndrome. Birth Defects; CDC. https://www.cdc.gov/birth-defects/about/down-syndrome.html

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an extra part or a whole extra chromosome 21 is present

the extra chromosome is attached or "trans-located" to a different chromosome rather than being a separate chromosome 21

About 3% of people have this type

source

Centers for Disease Control and Prevention. (2024a, December 26). Down Syndrome. Birth Defects; CDC. https://www.cdc.gov/birth-defects/about/down-syndrome.html

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mixture or combination

some cells have three copies of chromosome 21

other cells may have the typical two copies

have fewer features of the condition

about 2% of people have it

source

Centers for Disease Control and Prevention. (2024a, December 26). Down Syndrome. Birth Defects; CDC. https://www.cdc.gov/birth-defects/about/down-syndrome.html

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How to Address People with Down Syndrome? 

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How to Address People with Down Syndrome? 

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People with Down syndrome should always be referred to as people first.

Instead of “a Down syndrome child,” it should be “a child with Down syndrome.” Also avoid “Down’s child” and describing the condition as “Down’s,” as in, “He has Down’s.”

Down syndrome is a condition or a syndrome, not a disease.

source

About Down Syndrome. (2024a). Ndss.org. https://ndss.org/about?gad_source=1&gclid=CjwKCAjw7pO_BhAlEiwA4pMQvKyWH3h2IbjQVm4iY4a5DyXyf8b6D4fWA6DHMCi2YqAfUM8dElUhiBoCiKcQAvD_BwE

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Down Syndrome Education International is a global charity focused on improving education for children with Down syndrome. For over 40 years, it has researched their unique learning needs and developed effective teaching approaches. By sharing evidence-based guidance, the charity helps families, educators, and organizations worldwide to support children’s education and development. Each year, it reaches over 120,000 individuals in more than 170 countries.

source

Buckley, S., Mondschein, E., DiLaura, A., Gilbert, J., National Down Syndrome Society, & Down Syndrome Education International. (2021). DOWN SYNDROME: GUIDELINES FOR INCLUSIVE EDUCATION. In National Down Syndrome Society & Down Syndrome Education International.

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In-Home Respite for Down Syndrome

Weekend Respite Care for Down Syndrome

Emergency Respite Services for Down Syndrome

Financial Assistance for Down Syndrome Respite Care

source

incomioernani. “Down Syndrome Respite Care: Support, Services, and Stress Relief.” Special Strong, 25 Dec. 2024, www.specialstrong.com/down-syndrome-respite-care-support-services-and-stress-relief/.