The Common Features Among Those With Down Syndrome (2022)

In 1862, Dr. John Langdon Down noted that some of his patients shared a combination of distinct physical features, medical issues, and cognitive impairments.

Tying these similarities together, Down concluded that his patients had a specific syndrome. Down reported his observations in a medical journal and was the first to describe what we now know as Down syndrome.

Physical Features of Down Syndrome

While not all people withDown syndrome share the exact same physical characteristics, there are some features that tend to occur in this geneticdisorder. This is why people with Down syndrome have a similar appearance.

Three features that are found in nearly every person with Down syndrome are:

  • Epicanthic folds (extra skin of the inner eyelid, which gives the eyes an almond shape)
  • Upslanting palpebral fissures (slanting eyes)
  • Brachycephaly (a smaller head that is somewhat flattened in the back)

Other features that are seen in people withDown syndrome(but are not in everyone) include light-colored spots in their eyes (these are called Brushfield spots), a small, somewhat flat nose, a small, open mouth with a protruding tongue, and low-set small ears that may be folded.

In their mouth, people with Down syndrome may have abnormal teeth, a narrow palate, and a tongue with deep fissures in it (this is called a furrowed tongue). They may also have round faces, short necks with the extra skin at the nape of the neck, and somewhat flatter profiles.

The Common Features Among Those With Down Syndrome (1)

Other physical features seen in Down syndrome include a single crease across the palms of their hands as well as short stubby fingers with a fifth finger or pinky that curves inward (this is called clinodactyly). They often have straight hair that is fine and thin. In general, people with Down syndrome tend to be short in stature with short limbs. They may also have a larger than normal space between the big and second toes and extra-flexible joints.

It's important to understand that none of these facial or physical features are abnormal by themselves, nor do they lead to or cause any serious problems. However, if a doctor sees these features together, they will likelysuspect that the baby has Down syndrome.

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The Common Features Among Those With Down Syndrome (2)

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Health Problems in Down Syndrome

In addition to their facial and physical features, children withDown syndromehave a higher risk of developing a number of medical problems.

Here are seven health problems people with Down syndrome may face:

Hypotonia

Almost all infants with Down syndrome have low muscle tone (hypotonia), meaning their muscles are weakened and appear somewhat floppy. Low muscle tone can make it more difficult to roll over, sit-up,stand and talk. In newborns, hypotonia can also cause feeding problems.

Many children with Down syndrome are delayed in reaching their motor milestones because of hypotonia. Hypotonia cannot be cured but it generally improves over time. Physical therapy can help improve muscle tone. Hypotonia may lead to orthopedic problems, another common issue related to a Down syndrome diagnosis.

Vision Problems

Vision problems are common in Down syndrome and the likelihood of having one increases as a person ages. Examples of such vision problems include nearsightedness (myopia), farsightedness (hyperopia), crossed-eyes (strabismus), or shaking of the eye in a rhythmic pattern (nystagmus).

It is very important that children with Down syndrome have early eye exams since the majority of their vision problems are correctable.

Heart Defects

About 50 percent of babies with Down syndrome are born with heart defects. Some of these heart defects are mild and may correct themselves without medical intervention. Other heart defects are more severe, requiring surgery or medication.

Hearing Loss

Hearing problems are common in children with Down syndrome, especiallyotitis media, which affects about 50 to 70 percent and is a common cause of hearing loss . Hearing loss that is present at birth occurs in about 15 percent of babies with Down Syndrome.

Gastrointestinal Problems

About 5 percent of infants with Down syndrome will have gastrointestinal issues such as a narrowing or blockage of the intestines (duodenal atresia) or an absent anal opening (anal atresia). Most of these malformations can be fixed withsurgery.

An absence of the nerves in the colon (Hirschsprung’s disease) is more common in people with Down syndrome than in the general populationbut is still quite rare. There is also a strong link betweenceliac diseaseand Down syndrome, meaning it is more common in people with Down syndrome than in the general population.

Thyroid Problems

People with Down syndrome may also have problems with their thyroid gland—a small gland located in the neck—in that they don't produce enough thyroid hormone, which can result in hypothyroidism. Hypothyroidism is most often treated by taking replacement thyroid hormone. This medication must be taken for the rest of the person’s life. Hyperthyroidism (meaning an overactive thyroid gland) may also occur in people with Down syndrome.

Leukemia

Very rarely, about 1 percent of the time, an individual with Down syndrome can develop leukemia. Leukemia is a type of cancer that affects the blood cells in the bone marrow. Symptoms of leukemia include easy bruising, fatigue, a pale complexion, and unexplained fevers. Although leukemia is a very serious disease, the survival rate is high. Typically leukemia is treated with chemotherapy, radiation, or a bone marrow transplant.

Intellectual Issues in Down Syndrome

Everyone with Down syndrome has some degree of intellectual disability. People with Down syndrome tend to learn slower and have difficulties with complex reasoning and judgment. It is impossible to predict what level of intellectual disability those born with Down syndrome will have—although, this will become clearer as they age.

There is a wide range of mental abilities among people with Down syndrome. The IQ range—measure of intelligence—for normal intelligence is between 70 and 130. A person is considered to have a mild intellectual disability if their IQ is between 55 and 70. A moderately intellectually disabled person has an IQ of between 40 and 55.

(Video) Common features of down syndrome

Most individuals with Down syndrome score within the mild to moderate range for intellectual disability.

Despite their IQ, people with Down syndrome can learn. There is often a misconception that those with Down syndrome have a predetermined ability to learn. We know now that people with Down syndrome develop over the course of their lifetime and have the potential to learn. This potential can be maximized through early intervention, good education, higher expectations, and encouragement.

A Word From Verywell

It is important to remember that no one person living with Down syndrome will have all of the symptoms, features, health conditions, or intellectual problems described here. Nor does the number of physical problems a person with Down syndrome has correlate with their intellectual ability. Each and every person with Down syndrome has their own unique personality and strengths.

9 Sources

Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read our editorial process to learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.

  1. Van robays J. John Langdon Down (1828 - 1896). Facts Views Vis Obgyn. 2016;8(2):131-136. PMID: 27909572

  2. Asim A, Kumar A, Muthuswamy S, Jain S, Agarwal S. "Down syndrome: an insight of the disease". J Biomed Sci. 2015;22:41. doi: 10.1186/s12929-015-0138-y

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

  3. Dey A, Bhowmik K, Chatterjee A, Chakrabarty PB, Sinha S, Mukhopadhyay K. Down Syndrome Related Muscle Hypotonia: Association with COL6A3 Functional SNP rs2270669. Front Genet. 2013;4:57. doi: 10.3389/fgene.2013.00057

  4. Krinsky-mchale SJ, Jenkins EC, Zigman WB, Silverman W. Ophthalmic disorders in adults with down syndrome. Curr Gerontol Geriatr Res. 2012;2012:974253. doi: 10.1155/2012/974253

  5. Benhaourech S, Drighil A, Hammiri AE. Congenital heart disease and Down syndrome: various aspects of a confirmed association. Cardiovasc J Afr. 2016;27(5):287-290. doi: 10.5830/CVJA-2016-019

  6. Han F, Yu H, Zhang J, et al. Otitis media in a mouse model for Down syndrome. Int J Exp Pathol. 2009;90(5):480-8. doi: 10.1111/j.1365-2613.2009.00677.x

  7. Holmes G. Gastrointestinal disorders in Down syndrome. Gastroenterol Hepatol Bed Bench. 2014;7(1):6-8.

  8. Amr NH. Thyroid Disorders in Subjects with Down Syndrome: An Update. Acta Biomed. 2018;89(1):132-139. doi: 10.23750/abm.v89i1.7120

  9. Mateos MK, Barbaric D, Byatt SA, Sutton R, Marshall GM. Down syndrome and leukemia: insights into leukemogenesis and translational targets. Transl Pediatr. 2015;4(2):76-92. doi: 10.3978/j.issn.2224-4336.2015.03.03

Additional Reading

By Kathleen Fergus
Kathleen Fergus, MS, LCGC, is a board-certified genetic counselor who has worked extensively with families affected by Down syndrome.

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(Video) Down Syndrome: Signs, Symptoms, Diagnosis, and Treatment | Mass General Brigham

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FAQs

What is Down syndrome What are their common features? ›

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 specific features are observed more commonly in Down syndrome patients? ›

Down syndrome is usually identified at birth by the presence of certain physical traits: low muscle tone, a single deep crease across the palm of the hand, a slightly flattened facial profile, and an upward slant to the eyes.

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 Are Down syndrome facial features? ›

People with Down syndrome often have a characteristic facial appearance that includes a flattened appearance to the face, outside corners of the eyes that point upward (upslanting palpebral fissures ), small ears, a short neck , and a tongue that tends to stick out of the mouth.

Why is Down syndrome so common? ›

The number of babies born in the United States each year affected with Down syndrome is the result of several factors, including the number of fetuses conceived that carry the third copy of chromosome 21 (older mothers are more likely to conceive Down syndrome-affected fetuses, and the childbearing population in the ...

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.

What are 3 interesting facts about Down syndrome? ›

Facts About Down Syndrome
  • Down syndrome occurs in approximately one in 700 births. ...
  • There are three types of Down syndrome. ...
  • Down syndrome has been depicted in historical paintings from the 15th and 16th centuries. ...
  • Prenatal screening for Down syndrome is available. ...
  • Other health problems can occur with Down syndrome.
26 Jan 2021

What are the physical effects of Down syndrome? ›

Small head, ears, and mouth. Upward slanting eyes, often with a skin fold that comes out from the upper eyelid and covers the inner corner of the eye. White spots on the colored part of the eye (called Brushfield spots) Wide, short hands with short fingers.

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.

What are 4 common congenital anomalies of a child with Down syndrome? ›

Fourteen (2%) of the cases with DS had an obstructive anomaly of the renal pelvis, including hydronephrosis. The other most common anomalies associated with cases with DS were syndactyly, club foot, polydactyly, limb reduction, cataract, hydrocephaly, cleft palate, hypospadias and diaphragmatic hernia.

How common is Down syndrome in the world? ›

Background. The estimated incidence of Down syndrome is between 1 in 1,000 to 1 in 1,100 live births worldwide. Each year, approximately 3,000 to 5,000 children are born with this chromosome disorder.

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 do Down syndrome eyes look like? ›

Down syndrome is associated with common characteristic features of the eyes. This includes upward slanting of the eyelids, prominent folds of skin between the eye and the nose, and small white spots present on the iris (the colored part of the eye) called Brushfield's spots.

What is the risk of Down syndrome? ›

Genes are passed from parents to children. About 1 in 700 babies (less than 1 percent) is born with Down syndrome. Many children with Down syndrome lead healthy, active lives.

What is life like with a Down syndrome child? ›

Toddlers and older kids may have delays in speech and self-care skills like feeding, dressing, and using the toilet. Down syndrome affects kids' ability to learn in different ways, and most have mild to moderate intellectual disability. Kids can and do learn, and they can develop skills throughout their lives.

How many chromosomes do people with Down syndrome have? ›

Most people have 23 pairs of chromosomes — half are from your mom and half are from your dad — for a total of 46. But a baby with Down syndrome has an extra chromosome (47 instead of 46) or one chromosome has an extra part. This extra genetic material causes problems with the way their bodies develop.

How do you manage Down syndrome? ›

Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include speech, physical, occupational, and/or educational therapy. With support and treatment, many people with Down syndrome live happy, productive lives.

What do you call a Down syndrome person? ›

People with Down syndrome and other medical diagnoses should always be referred to as people first. Instead of describing someone as “a Down syndrome child,” it should be “a child with Down syndrome.” This is called “person first” language and takes care to put the emphasis on a person, not a disability.

Can you prevent Down syndrome? ›

Can Down syndrome be prevented? Down syndrome can't be prevented, but parents can take steps that may reduce the risk. The older the mother, the higher the risk of having a baby with Down syndrome. Women can reduce the risk of Down syndrome by giving birth before age 35.

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.

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 a Down syndrome baby? ›

Down syndrome is a condition in which a baby is born with an extra chromosome number 21. The extra chromosome is associated with delays in the child's mental and physical development, as well as an increased risk for health problems.

What is the diagnosis of Down syndrome? ›

Using a sample of blood, this test analyzes your child's chromosomes. If there's an extra chromosome 21 in all or some cells, the diagnosis is Down syndrome.

What are 3 interesting facts about Down syndrome? ›

Facts About Down Syndrome
  • Down syndrome occurs in approximately one in 700 births. ...
  • There are three types of Down syndrome. ...
  • Down syndrome has been depicted in historical paintings from the 15th and 16th centuries. ...
  • Prenatal screening for Down syndrome is available. ...
  • Other health problems can occur with Down syndrome.
26 Jan 2021

What do you call a Down syndrome person? ›

People with Down syndrome and other medical diagnoses should always be referred to as people first. Instead of describing someone as “a Down syndrome child,” it should be “a child with Down syndrome.” This is called “person first” language and takes care to put the emphasis on a person, not a disability.

How does a person with Down syndrome act? ›

The most common mental health concerns in individuals with Down syndrome include anxiety, obsessive-compulsive behaviors, oppositional behaviors, depression, and tic disorder.

What problems do people with Down syndrome have? ›

Potentially serious complications — The most serious complications of Down syndrome include heart defects, blood disorders that can include leukemia (cancer of the blood), and immune system problems. Heart defects — Approximately half of all babies with Down syndrome are born with (often repairable) heart defects.

What happens in Down syndrome? ›

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. That means you have three copies instead of two, which leads to the symptoms of Down syndrome. Doctors aren't sure why this happens.

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.

Can a person with Down syndrome have a baby? ›

Misconception: People who have Down syndrome cannot have children. Reality: It's true that a person with Down syndrome may have significant challenges in rearing a child. But women who have Down syndrome are fertile and can give birth to children.

Can 2 Down syndrome have a baby? ›

There have been only a few reports of men with Down's syndrome fathering children. Again, if a man's partner did not have Down's syndrome, the chance that the baby would have the condition is 50%. If both partners have Down's syndrome there is a high chance of their children having the condition.

Can people with Down syndrome get married? ›

My interviews with people in the adult range with Down syndrome suggest that many of them, who would be capable of entering into a partnership or marriage understand, are open to, and have a concern for regulating their reproductive patterns.

How do you manage Down syndrome? ›

Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include speech, physical, occupational, and/or educational therapy. With support and treatment, many people with Down syndrome live happy, productive lives.

How old 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.

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.

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