Common Characteristics of Down Syndrome (2022)

Down syndrome is a genetic disorder in which there is an extra full or partial chromosome 21. For most people with Down syndrome, this anomaly causes a host of distinctive physical characteristics as well as potential health and medical problems. The exception are those who have the relatively rare form of Down syndrome called mosaic Down syndrome,in which not all cells have an extra chromosome 21. A person with this type of Down syndrome may have all the features of full trisomy 21, a few of them, or none at all.

Many characteristics of full trisomy 21 are quite noticeable—a round face and upturned eyes, and a short, stocky build, for example. People with Down syndrome sometimes move awkwardly, usually due to low muscle tone (hypotonia) at birth that can interfere with physical development.

Down syndrome also is associated with developmental delays and intellectual challenges, though it's important to remember that the extent of these varies widely.

Technically speaking, parents and doctors look for signs of Down syndrome, rather than symptoms. These may be seen once a child is born or, in some cases, in utero.

Common Characteristics of Down Syndrome (1)

Physical Characteristics

The first indication a child might haveDown syndromecan appear during routine prenatal testing.In a maternal blood test called the quadruple screen, elevated levels of certain substances can be a red flag for Down syndrome but do not mean a baby definitely has the disorder.

Visible Signs

On an ultrasound (an image of a developing fetus, also called a sonogram), visible signs a baby may have Down syndrome include:

  • Excess skin in the back of the neck (nuchal translucency)
  • A shorter-than-normal femur (thigh) bone
  • A missing nose bone

These signs prompt health providers to recommend anamniocentesis or chorionic villi sampling(CVS), both prenatal tests that examine cells taken from the amniotic fluid or the placenta, respectively and that can confirm a diagnosis of Down syndrome. Some parents opt for these tests, while others do not.

Features

(Video) Down Syndrome Features

People with Down syndrome share a host of recognizablefacial and physical features.These are most apparent at birth and can become more pronounced with time. The obvious characteristics of Down syndrome include:

  • A round face with a flat profile and small nose and mouth
  • A large tongue that may protrude from the mouth
  • Almond-shaped eyes with skin that covers the inner eye (epicanthus folds)
  • White flecks in the colored part of the eyes (Brushfield spots)
  • Small ears
  • A small head that's somewhat flat in the back (brachycephaly)
  • Short neck
  • Clinodactyly: A single crease across the palm of each hand (normally there are two), short stubby fingers, and a pinky finger that curves inward
  • Small feet with a larger than normal space between the big and second toes
  • Short, stocky build: At birth, children with Down syndrome usually are average size, but tend to grow at a slower rate and remain smaller than other kids their age. It's also common for people with Down syndrome to be overweight.
  • Low muscle tone: Infants with Down syndrome often appear “floppy” due to a condition called hypotonia. Though hypotonia can and often does improve with age and physical therapy, most children with Down syndrome typically reachdevelopmental milestones—sitting up, crawling, and walking—later than other kids. Low muscle tone may contribute to feeding problems and motor delays. Toddlers and older kids may have delays in speech and in learning skills such as feeding, dressing, and toilet training.

Intellect and Development

All people with Down syndrome have some degree of intellectual disability or developmental delay, which means they tend to learn slowly and may struggle with complex reasoning and judgment.

There's a common misconception that children with Down syndrome have predetermined limits in their abilityto learn, but this is entirely false.It's impossible to predict the degree to which a baby born with Down syndrome will be intellectually disadvantaged.

According to the international advocacy organizationDown Syndrome Education(DSE), relatedchallenges can be bucketed as follows:

  • Slow development of motor skills:Delays in reaching milestones that allow a child to move about, walk, and use their hands and mouth can lower their opportunities to explore and learn about the world, which in turn can affect cognitive development and impact the language skills development.
  • Expressive language, grammar, and speech clarity:Because of delays in developing language comprehension, most children with Down syndrome are slow to master correct sentence structure and grammar, according to the DSE. They're also likely to have problems with speaking clearly, even when they know exactly what they're trying to say. This can be frustrating and sometimes lead to behavior problems. It can even cause a child's cognitive abilities to be underestimated.
  • Number skills:Most children with Down syndrome find it harder to master number skills than reading skills. In fact, the DSE says that the former are typically around two years behind the latter.
  • Verbal short-term memory:Short-term memory is the immediate memory system that hangs on to just-learned information for short periods of time. It supports all learning and cognitive activity and has separate components for processing visual or verbal information. Kids who have Down syndrome aren't as able to hold and process information that comes to them verbally as they are to remember what's presented to them visually. This can put them at a special disadvantage in classroomswhere most new info is taught through spoken language.

What is certain is that people with Down syndrome have the potential to learnthroughout their lifetimes and that their potential can be maximized through early intervention, good education, high expectations, and encouragement from family, caregivers, and teachers. Children with Down syndrome can and do learn, and are capable of developing skills throughout their lives. They simply reach goals at a different pace.

Psychological Characteristics

People with Down syndrome often are regarded as particularly happy, sociable, and outgoing. While in general, this may be true, it's important to not stereotype them, even when it comes to labeling them with such positive characteristics.

People who have Down syndrome experience a full range of emotions and have their own characteristics, strengths, weaknesses, and styles—just like anyone else.

(Video) Down syndrome (trisomy 21) - causes, symptoms, diagnosis, & pathology

There are some behaviors associated with Down syndrome that are largelydue to the unique challenges the condition presents. For example, most people with Down syndrome tend to need order and routine when dealing with the complexities of daily life. They thrive on routine and will often insist on sameness. This can be interpreted as innate stubbornness, but that's rarely what's going on.

Another behavior often seen in people with Down syndrome is self-talk—something everyone does sometimes. It's thought that people with Down syndrome frequently use self-talk as a way of processing information and thinking things through.

Complications

As you can see, it's hard to separate out some of the signs of Down syndrome from its potential complications. Keep in mind, though, that while many of the above issues pose undeniable concern, others simply chart a course for an individual that is out of "the norm." Individuals with Down syndrome and their families embrace all of this in their own ways.

That said, people with Down syndrome are more likely than otherwise healthy people to have certain physical and mental health issues. Care throughout one's life can be complicated by these additional concerns.

Hearing Loss and Ear Infections

According to theCenters for Disease Control and Prevention, up to 75 percent of children with Down syndrome will have some form of hearing loss. In many cases, this may bebecause of abnormalities in the bones of the inner ear.

Children with Down syndrome are also at an increased risk of ear infections. Chronic ear infections can contribute to hearing loss.

Problems with Vision or Eye Health

As many as 60percentof children with Down syndrome will have some type of vision problem, such asnearsightedness,farsightedness,crossed eyes, cataracts, orblocked tear ducts, according to the CDC. Half will need to wear glasses.

Infections

TheNational Institutes of Health(NIH) states, "Down syndrome often causes problems in the immune system that can make it difficult for the body to fight off infections." Infants with the disorder have a 62 percent higher rate of pneumonia in the first year of life than do other new babies, for example.

Obstructive Sleep Apnea

TheNational Down Syndrome Society(NSDD) reports that there is a 50 to 100% chance that a person with Down syndrome will develop this sleep disorder, in which breathing stops temporarily during sleep. The condition is particularly common in Down syndrome because of physical anomalies such as low muscle tone in the mouth and upper airway, narrow air passages, enlarged tonsils and adenoids, and a relatively large tongue. Often, the first attempt at treating sleep apnea in a child with Down syndromeis the removal of the adenoids and/or the tonsils.

(Video) Down Syndrome: Dysmorphic Features

Musculoskeletal Problems

TheAmerican Academy of Orthopaedic Surgeonslists a number of issues affecting the muscles, bones, and joints of people with Down syndrome. One of the most common is an upper neck abnormality calledatlantoaxial instability(AAI), in whichvertebraein the neck become misaligned. It doesn't always cause symptoms, but when it does it can lead to neurological symptoms such as clumsiness, difficulty walkingor an abnormal gait (e.g. limping), nerve pain in the neck, and muscle tightness or contractions.

Down syndrome also is associated with joint instability, leading to hips and knees that may easily become dislocated.

Heart Defects

About half of all babies with Down syndrome are born with heart defects, reports the CDC. These can range from mild problems that are likely to correct themselves over time to serious defects that will require medication or surgeries.

The most common heart defect seen in infants with Down syndrome is anatrioventricular septal defect(AVSD)—holes in the heart that interfere with the normal flow of blood. An AVSD may need to be surgically treated.

Children with Down syndrome who aren't born with heart problems will not develop them later in life.

Gastrointestinal Issues

People with Down syndrome tend to be at an increased risk for a variety ofGI problems. One of these, a condition called duodenal atresia, is a deformity of the small tube-like structure (the duodenum) that allows digested material from the stomach to pass into the small bowel. In a newborn, this condition causes a swollen upper abdomen, excessive vomiting, and lack of urination and bowel movements (after the first few meconium stools). Duodenalatresia can be successfully treated with surgery soon after birth.

Another gastrointestinal condition of note in Down syndrome isHirschsprung disease—an absence of nerves in the colon, whichcan cause constipation.

Celiac disease, in which intestinal problems develop when someone eats gluten, a protein found in wheat, barley, and rye, is more common in people with Down syndrome as well.

Hypothyroidism

In this condition, the thyroid gland makes little or no thyroid hormone, whichregulates bodily functions such as temperature and energy.Hypothyroidismcan be present at birth or develop later in life, so regular testing for the condition should be done beginning when a baby with Down syndrome is born. Hypothyroidism can be managed by taking thyroid hormone by mouth.

Blood Disorders

These include anemia, in which red blood cells don’t have enough iron to carry oxygen to the body, and polycythemia (higher-than-normal levels of red blood cells). Childhood leukemia, a type of cancer that affects the white blood cells, occurs in about2 to 3% of children with Down syndrome.

Epilepsy

According to the NIH, this seizure disorder is most likely to occur during the first two years of the life of a person with Down syndrome or to develop after the third decade.

About half of the people with Down syndrome developepilepsyafter age 50.

(Video) Down Syndrome, Causes, Signs and Symptoms, Diagnosis and Treatment.

Mental Health Disorders

It's also vital to understand that, despite what may appear to be innately unshakeable cheeriness, higher rates of anxiety disorders,depression, andobsessive-compulsive disorderhave all been reported in Down syndrome. These psychological problems can be successfully treated with behavior modification, counseling, and sometimes medication.

Are You at Risk of Having a Child With Down Syndrome?

Frequently Asked Questions

FAQs

What are 5 characteristics of Down syndrome? ›

The characteristics of Down syndrome include low muscle tone, short stature, a flat nasal bridge, and a protruding tongue. People with Down syndrome have a higher risk of some conditions, including Alzheimer's disease and epilepsy.

What are common characteristics we see with Down syndrome? ›

A few of the common physical traits of Down syndrome are low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm – although each person with Down syndrome is a unique individual and may possess these characteristics to different degrees, or not at all.

What is the most common associated condition with Down syndrome? ›

Heart defects.

Almost one-half of babies with Down syndrome have congenital heart disease (CHD), the most common type of birth defect.

What characterized a child with Down syndrome? ›

Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy. All affected individuals experience cognitive delays, but the intellectual disability is usually mild to moderate.

What are the 4 types of Down syndrome? ›

What are the Different Types of Down syndrome? There are three types of Down syndrome: trisomy 21 (nondisjunction), translocation and mosaicism. Trisomy 21 (nondisjunction) accounts for 95% of known cases of Down syndrome.

Which physical characteristic is most indicative of an individual with Down syndrome? ›

Low muscle tone. Loose joints, making them very flexible. Short height, both as children and adults. Short neck.

What is the main cause of Down syndrome? ›

Down Syndrome Causes and Risk Factors

For most people, each cell in your body has 23 pairs of chromosomes. One chromosome in each pair comes from your mother and the other comes from your father. But with Down syndrome, something goes wrong and you get an extra copy of chromosome 21.

How do you detect Down syndrome? ›

Amniocentesis, chorionic villus sampling (CVS) and ultrasound are the three primary procedures for diagnostic testing. Amniocentesis — Amniocentesis is used most commonly to identify chromosomal problems such as Down syndrome.

What is the effects of Down syndrome? ›

Kids with Down syndrome often have similar physical features, such as a flat facial profile, an upward slant to the eyes, small ears, and a tongue that tends to stick out. Low muscle tone (called hypotonia) is also common in kids with Down syndrome but is less obvious as they get older.

Who is most affected by Down syndrome? ›

Although women older than 35 years of age make up a small portion of all births6 in the United States each year, about nearly one-half of babies with Down syndrome are born to women in this age group. This likelihood increases as age increases.

What do people with Down syndrome struggle with? ›

Children with Down syndrome have delays in speech and motor skills, and may need help with self-care, such as dressing and grooming. Medical problems associated with Down syndrome can vary widely from child to child. While some kids and teens need a lot of medical attention, others lead healthy lives.

What challenges does a person with Down syndrome face? ›

Individuals with Down syndrome are more like their typically developing peers than they are different.
...
Down Syndrome Learning Difficulties
  • Hearing and vision weakness.
  • Fine motor skill impairment due to low muscle tone.
  • Weak auditory memory.
  • Short attention span and distractibility.
  • Sequencing difficulties.

Is Down syndrome obvious at birth? ›

Down syndrome is usually quite evident as soon as a baby with the disorder is born, as many of its distinctive physical characteristics are present at birth.

What is the difference between Down syndrome and autism? ›

Autism and Down syndrome are separate conditions, but it's possible for a person to have both.
...
Symptoms of both.
AutismDown syndrome
May act as though other people are inanimate objectsTries to copy others
Parallel play (plays beside others)Joint attention (plays with others)
1 more row
3 Feb 2022

What is another name for Down syndrome? ›

Down syndrome, also called Down's syndrome, trisomy 21, or (formerly) mongolism, congenital disorder caused by the presence in the human genome of extra genetic material from chromosome 21.

Why Down syndrome sticks tongue out? ›

Some babies have decreased muscle tone. Since the tongue is a muscle, and is controlled by other muscles in the mouth, decreased muscle tone can cause the tongue to stick out more than usual. Several conditions may cause decreased muscle tone, such as Down syndrome, DiGeorge syndrome, and cerebral palsy.

Can you be a little bit Down syndrome? ›

Some have two copies of chromosome 21, and some have three. Mosaic Down syndrome occurs in about 2 percent of all Down syndrome cases. People with mosaic Down syndrome often, but not always, have fewer symptoms of Down syndrome because some cells are normal.

What is the oldest living Down syndrome person? ›

Joyce Greenman is the oldest woman, and person, ever to live with Down Syndrome. Her name is recorded in the Guinness Book of World Records, and has been there since 2012.

Why does Down syndrome affect facial features? ›

The most common live-born human aneuploidy is trisomy 21, which causes Down syndrome (DS). Dosage imbalance of genes on chromosome 21 (Hsa21) affects complex gene-regulatory interactions and alters development to produce a wide range of phenotypes, including characteristic facial dysmorphology.

Why do people with Down syndrome have thin hair? ›

Several autoimmune diseases are more prevalent in people with Down syndrome (DS) including alopecia areata, a chronic immunological disorder that targets hair follicles and causes hair loss.

Which of the following oral features are frequently associated with Down syndrome? ›

TOOTH ANOMALIES are common in Down syndrome. Congenitally missing teeth occur more often in people with Down syndrome than in the general population. Third molars, laterals, and mandibular second bicuspids are the most common missing teeth.

Is Down syndrome caused by the mother or father? ›

To date, no behavioral activity of the parents or environmental factor is known to cause Down syndrome. After much research on these cell division errors, researchers know that: In the majority of cases, the extra copy of chromosome 21 comes from the mother in the egg.

How long do Down syndrome people live? ›

People with Down syndrome can expect to live to 60

In the 1940s, a child with Down syndrome had a life expectancy of 12 years. These days, their life expectancy is 60 years and a baby born with Down syndrome could live into their 80s — in line with the general population.

What is the mildest form of Down syndrome? ›

Mosaicism or mosaic Down syndrome is diagnosed when there is a mixture of two types of cells. Some have the usual 46 chromosomes and some have 47. Those cells with 47 chromosomes have an extra chromosome 21. Mosaicism is usually described as a percentage.

Can Down syndrome go undiagnosed? ›

DSA|OC :: Down Syndrome Association Of Orange County

The most common reason for this late diagnosis is the lack of knowledge in the medical field on this rare form of Down syndrome. However, many individuals can go undiagnosed up into adulthood and there are still thousands who never receive a diagnosis.

What makes you high risk for Down's syndrome baby? ›

Maternal age

Down syndrome can occur at any maternal age, but the possibility increases as a person of reproductive age gets older. A 25-year-old has a one in 1,200 chance of having a baby with Down syndrome. By 35 years of age, the risk increases to one in 350—and it becomes one in 100 by the age of 40.

Do people with Down syndrome know they have it? ›

Most adults with Down syndrome are aware they have Down syndrome. Children with Down syndrome live ordinary lives filled with extraordinary needs. You cannot have mild or severe Down syndrome. Either you have it or you do not.

Is Down syndrome a disability? ›

Down syndrome is the most common genetic cause of intellectual disability, affecting approximately 1 in every 700 children. It is named for John Langdon Down, the British physician who first recognized the traits of Down syndrome in 1866.

Can you be slightly Down syndrome? ›

Down syndrome symptoms vary from person to person and can range from mild to severe. No matter how severe the condition is, people with Down syndrome have a widely-recognized appearance. The head may be smaller than normal and abnormally shaped.

Can Down syndrome people have normal intelligence? ›

The average IQ of a young adult with Down syndrome is 50, equivalent to the mental ability of an eight- or nine-year-old child, but this can vary widely.
...
Down syndrome
SymptomsDelayed physical growth, characteristic facial features, mild to moderate intellectual disability
Usual onsetBefore birth
DurationLife long
10 more rows

Do people with Down syndrome know they have it? ›

Most adults with Down syndrome are aware they have Down syndrome. Children with Down syndrome live ordinary lives filled with extraordinary needs. You cannot have mild or severe Down syndrome. Either you have it or you do not.

What part of the body does Down syndrome affect? ›

Down syndrome, the most common chromosome-related genetic condition in the U.S., affects development of the brain and body. People with Down syndrome face physical and mental challenges, but can lead full and happy lives.

What is the mildest form of Down syndrome? ›

Mosaicism or mosaic Down syndrome is diagnosed when there is a mixture of two types of cells. Some have the usual 46 chromosomes and some have 47. Those cells with 47 chromosomes have an extra chromosome 21. Mosaicism is usually described as a percentage.

What is the life expectancy of Down syndrome? ›

1. Today the average lifespan of a person with Down syndrome is approximately 60 years. As recently as 1983, the average lifespan of a person with Down syndrome was 25 years.

What are the signs of mosaic Down syndrome? ›

Mosaic Down syndrome symptoms
  • slower speech.
  • lower IQ.
  • a flattened face.
  • small ears.
  • shorter height.
  • eyes that tend to slant up.
  • white spots on the iris of the eye.

How are people with Downs syndrome different? ›

People with Down syndrome usually have an IQ (a measure of intelligence) in the mildly-to-moderately low range and are slower to speak than other children. Some common physical features of Down syndrome include: A flattened face, especially the bridge of the nose. Almond-shaped eyes that slant up.

What is it like raising a child with Down syndrome? ›

It's common for parents of babies with Down syndrome to experience shock, sadness and fear over the unknowns of raising a child who has intellectual and developmental disabilities. Serious health problems can add to the panic; about half of all children born with Down syndrome have heart defects.

Who's the smartest person with Down syndrome? ›

Christopher Langan
Langan in 2017
BornMarch 25, 1952 San Francisco, California, U.S.
EducationReed College (dropped out) Montana State University–Bozeman (dropped out)
OccupationHorse rancher
2 more rows

What should you not say to someone with Down syndrome? ›

10 Things You Should Never Say to a Mother of a Child with Down Syndrome
  • Nothing. ...
  • "You only get given what you can handle." ...
  • "He/she is God's gift." ...
  • "I could never handle what you handle." ...
  • The "R" word. ...
  • "Did you get genetic testing?" ...
  • ' ...
  • "Everything happens for a reason."
23 Jun 2014

How do adults with Down syndrome behave? ›

As adults with Down syndrome grow older, there is increased risk of experiencing certain common mental health disorders like depression, anxiety, obsessive compulsive disorder and behavioral disturbances. A sudden or abrupt change in mood or behavior patterns warrants further investigation.

Can you live a normal life with Down syndrome? ›

Adults with Down syndrome have a range of needs, abilities, and desires, just like any other group of people. Some will learn to drive, have relationships, and live almost entirely on their own.

What do people with Down syndrome struggle with? ›

Children with Down syndrome have delays in speech and motor skills, and may need help with self-care, such as dressing and grooming. Medical problems associated with Down syndrome can vary widely from child to child. While some kids and teens need a lot of medical attention, others lead healthy lives.

What is the main cause of Down syndrome? ›

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.

Does Down syndrome affect walking? ›

Children with Down Syndrome sometimes take a long time to walk independently after they have learned to walk with support. It is harder for them to balance and co-ordinate themselves, as they do not get the same sensory information from their bodies, particularly if their muscles are very floppy.

Videos

1. Trisomy 21 (Down Syndrome): Introduction – Pediatrics | Lecturio
(Lecturio Medical)
2. Down Syndrome – Genetics | Lecturio
(Lecturio Medical)
3. Physical and Motor Characteristics of Down Syndrome
(Team TVS)
4. Common features of down syndrome
(Giomarell Feliciano Mendez)
5. Down Syndrome: Attitudes and Expectations
(Boston Children's Hospital)
6. Raising a baby with Down Syndrome
(Attitude)

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