What are the symptoms of Down syndrome?

The symptoms of Down syndrome vary from person to person, and people with Down syndrome may have different problems at different times of their lives.

Physical Symptoms

Common physical signs of Down syndrome include1,2:

  • Decreased or poor muscle tone
  • Short neck, with excess skin at the back of the neck
  • Flattened facial profile and nose
  • 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
  • A single, deep crease across the palm of the hand
  • A deep groove between the first and second toes

In addition, physical development in children with Down syndrome is often slower than development in children without Down syndrome. For example, because of poor muscle tone, a child with Down syndrome may be slow to learn to turn over, sit, stand, and walk. Despite these delays, children with Down syndrome can learn to participate in physical exercise activities like other children.3 It may take children with Down syndrome longer than other children to reach developmental milestones, but they will eventually meet many of these milestones.2

Intellectual and Developmental Symptoms

Cognitive impairment, or problems with thinking and learning, is common in people with Down syndrome and usually ranges from mild to moderate. Only rarely is Down syndrome associated with severe cognitive impairment.1

Other common cognitive and behavioral problems may include1,2,3:

  • Short attention span
  • Poor judgment
  • Impulsive behavior
  • Slow learning
  • Delayed language and speech development

Most children with Down syndrome develop the communication skills they need, although it might take longer for them to do so compared with other children. Early, ongoing speech and language interventions to encourage expressive language and improve speech are particularly helpful.4

Parents and families of children with Down syndrome can connect with other families and people with Down syndrome from around the world to learn more and share information. The NICHD-led DS-Connect® is a safe and secure registry to help families and researchers identify similarities and differences in the physical and developmental symptoms and milestones of people with Down syndrome and guide future research. Learn more about DS-Connect®: The Down Syndrome Registry.

Associated Conditions and Disorders

People with Down syndrome are at increased risk for a range of other health conditions, including autism spectrum disorders, problems with hormones and glands, hearing loss, vision problems, and heart abnormalities.1 Learn more about these conditions in the What conditions or disorders are commonly associated with Down syndrome? section.

Citations

  1. Bull, M. J., & the Committee on Genetics. (2011). Health supervision for children with Down syndrome. Pediatrics, 128, 393–406.
  2. MedlinePlus. (2012). Down syndrome. In A.D.A.M. Medical Encyclopedia. Retrieved June 11, 2012, from https://medlineplus.gov/ency/article/000997.htm
  3. Ulrich, D. A., Burghardt, A. R., Lloyd, M., Tiernan, C., & Hornyak, J. R. (2011). Physical activity benefits of learning to ride a two-wheel bicycle for children with Down syndrome: A randomized trial. Physical Therapy, 91, 1463–1477.
  4. Martin, G. E., Klusek, J., Estigarribia, B., & Roberts, J. E. (2009). Language characteristics of individuals with Down syndrome. Topics in Language Disorders, 29(2), 112–132.
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