A pregnant woman

Down Syndrome Symptoms

Down syndrome results in lifelong intellectual disabilities, developmental delays, and other health problems in some cases. This disorder is caused by abnormal cell division before or at conception that leads to extra genetic material from chromosome 21.

Symptoms of Down Syndrome

The exact symptoms of Down syndrome and their severity will vary from individual to individual. However, there are certain symptoms that tend to be common for people who have this disorder. There are three categories of symptoms that are consistent with Down syndrome, including body shape and size, face shape and features, and physical and mental health problems.

The body shape and size of someone with Down syndrome will usually include:

  • Short stature: Children with Down syndrome will often grow slower and be much shorter than average once they reach adulthood.

  • Hypotonia: This is a term for very low muscle tone throughout the body, and it affects most individuals with Down syndrome. Additionally, the low muscle tone in the belly muscles will often make the stomach appear to stick out.

  • Short, wide neck: It is also common for the head to be smaller than average and the neck to have excess skin and fat.

The face shape and features of someone with Down syndrome will usually include:

  • Slanted eyes: The eyes are usually slanted upwards in patients with the condition. It is also common for individuals with Down syndrome to have Brushfield spots, which are tiny white spots located on the colored part of the eye.

  • Flattened facial features: The nasal bridge is the flat area between the nose and the eyes. This area usually appears pushed in in someone with Down syndrome.  

  • Small ears: The ears are usually much smaller than normal and set lower on the head than they should be as well.

  • Irregularly shaped mouth and tongue: The roof of the mouth, or palate, is often narrow and high with a downward curve, which can cause the tongue to partially stick out.

  • Irregular and crooked teeth: Because the teeth will often come in later and in a different order than normal, this can lead to teeth that are crooked and irregular.

Some of the mental and physical health problems that are associated with Down syndrome include:

  • Intellectual disability: Most children with Down syndrome will experience mild to moderate cognitive disabilities and developmental delays.

  • Behavior problems: Depression or other behavioral problems associated with ADHD or autism are also common for children with Down syndrome.

  • Physical health problems: Heart defects affect about half of the children with Down syndrome. Other common health problems that can affect people with Down syndrome include hypothyroidism, celiac disease, eye conditions, respiratory infections, constipation, and hearing problems.