What Are the Facial Features of Down Syndrome?

Those with Down syndrome tend to have similar appearances

Child, Down's Syndrome. Credit: BSIP / Contributor / Getty Images

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.

It is important to remember that no one person with Down syndrome will have all of the features described here.

Nor does the number of physical problems a person with Down syndrome have correlate with their intellectual ability. Each and every person with Down syndrome has their own unique personality and strengths.

Facial and Physical Features of Down Syndrome

Those born with Down syndrome will typically have some distinctive facial features including almond shaped eyes (due to epicanthal folds); light-colored spots in their eyes (Brushfield spots); a small, somewhat flat nose, a small mouth with a protruding tongue; and small ears. They may also have round faces and somewhat flatter profiles.

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 (clinodactyly). They have a smaller head that is somewhat flattened in the back (brachycephaly) and 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.

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 likely suspect that the baby has Down syndrome.

Physical Health Problems

In addition to their facial and physical features, children with Down syndrome have a higher risk of developing a number of medical problems. However, some individuals with Down syndrome have no medical issues. Here are seven health problems people with Down syndrome may face. 

1) 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's diagnosis.  

2) Vision issues: Approximately 70 percent of children with Down syndrome will have some type of vision problem such as nearsightedness (myopia), farsightedness (hypermetropia), crossed-eyes (strabismus), or blocked tear ducts (nasolacrimal duct obstructions). It is very important that children with Down syndrome have early eye exams since the majority of these vision problems are correctable.

3) Heart defects: About 40 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.

4) Hearing loss: Somewhere between 40 to 60 percent of babies with Down syndrome will have some form of hearing loss. Most infants in the US are screened for hearing loss shortly after birth.

Rarely is an infant with Down syndrome completely deaf.

5) Gastrointestinal problems: About 10 percent of infants with Down syndrome will have gastrointestinal issues such as a narrowing or blockage of the intestines (duodenal atresia), an absent anal opening (anal atresia), an obstruction of the outlet of the stomach (pyloric stenosis), or an absence of the nerves in the colon (Hirschsprung’s disease). Most of these malformations can be fixed with surgery.

6) Thyroid problems: People with Down syndrome may also have problems with their thyroid gland –– a small gland located in the neck. People with Down syndrome 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.

7) 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 white blood cells in the body.

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

All individuals with Down syndrome have 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. Most individuals with Down syndrome score within the mild to moderate range.

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.


Stray-Gunderson, K., Babies with Down Syndrome - A New Parents Guide, Woodbine House, 1995.

Chen, H., Down syndrome, Emedicine, 2007

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