What Are the Features, Characteristics and Symptoms of Down Syndrome?
In 1862, Dr. John Langdon Down noted that some of his patients shared certain distinct physical features, medical problems and cognitive impairments. He concluded that these patients had a specific “syndrome.” A syndrome is merely a collection or group of features and symptoms with a common cause, that characterize a specific condition. Dr. Down reported his observations in a medical journal and was the first to describe what is now known 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 has correlate with their intellectual capacity. Each and every child with Down syndrome has their own unique personality and strengths.
The purpose of listing some of the features seen in people with Down syndrome is not to scare or overwhelm you, but to enable you to be proactive in caring for your child. By knowing what you might expect, you can take the steps necessary to get the right treatments and support, if you child does start to show any concerning signs or symptoms. It is important to remember that no one individual with Down syndrome will have all of the features of Down syndrome, and that not all of the features that have been described are medically important.
Before discussing the problems associated with Down syndrome, it is important to acknowledge the things that children with Down syndrome can do. They can learn to walk and talk, they can learn to ride a bike and they can learn to do many of the things that other children do. It is very important not to have limited expectations for a child with Down syndrome and to give them as many opportunities as possible. Let them show you what they are capable of doing!
That being said, there are specific physical differences, medical concerns and intellectual challenges faced by a person with Down syndrome. The good news is that medical treatments and other therapies have substantially improved in the last few decades and the majority of babies with Down syndrome grow up to be active and healthy, and have a long life expectancy.
Facial and Physical Features
A baby with Down syndrome has some distinct facial features which can include almond shaped eyes (due to epicanthal folds), light-colored spots in their eyes (called Brushfield spots), a small, somewhat flat nose, a small mouth with a protruding tongue, and small ears. They 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, short stubby fingers and 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, they tend to have short stature with short limbs, and can have a larger than normal space between the big and second toes.
None of these facial or physical features are abnormal by themselves, nor would they cause a baby with Down syndrome any problems. But if a doctor sees a number of these features together in one baby, they begin to suspect that the baby has Down syndrome. These facial and physical features are what cause people with Down syndrome resemble one another, although they also resemble their own families.