Signs & Symptoms of Down Syndrome

The signs and symptoms of down syndrome include over 50 characteristics and tend to vary in the number and severity manifested by individual children.

General Characteristics: Most children with down syndrome tend to possess the following characteristics:

  • Stunted Stature: The physical growth of the child is slower than that of a normal child and hence these children have short stunted statures.
  • Children display hypotonia; this refers to poor muscle control. Owing to the weakness of the abdominal muscles, the abdomens of children with down syndrome tend to stick out.
  • One of the most obvious traits as far as children are concerned is a short and stout neck with excess fat. This gets less obvious in adulthood.
  • The limbs of such children (arms and legs) are rather pudgy and stocky. Some children may also display a wide gap between the big toe and the second toe.
  • Unlike the palms of normal children, children with down syndrome have only one single crease across the palm. This is called a simian line or a transverse palmar crease.

Facial Features: The facial features of such children are extremely distinct in terms of the following:

  • Their ears are small in size and are low set.
  • They have broad flat foreheads.
  • Their mouths are irregularly shaped and their tongues invariably stick out through their teeth. This could be due to the fact that the palate of the mouth is slightly narrow and downward sloping.
  • They have flat noses as their nasal bridge appears to be pushed in.
  • There may be tissue buildup on the iris (colored part of the eye). This does not have an effect on their vision.
  • They also have crooked and irregular teeth. Their teething is delayed and the teeth do not emerge in a regular pattern.

Some of the other medical conditions include the following:

  • Intellectual and Mental Disability: Most of these children display deficits in mental and intellectual ability. However, it ranges from mild to moderate cognitive deficits.
  • Heart Abnormalities: Almost all children with down syndrome have heart abnormalities that are detected at birth or immediately thereafter.
  • Some children may suffer from diseases such as celiac disease, hypothyroidism as well as certain eye conditions.
  • Some of the other health problems include hearing problems, respiratory conditions and dental disease.

Frequently asked questions
  1. Melissa A. Davidson, Primary Care for Children and Adolescents with Down Syndrome, Pediatric Clinics of North America, Volume 55, Issue 5, October 2008, Pages 1099-1111, ISSN 0031-3955, 10.1016/j.pcl.2008.07.001.
  2. Iris Teresa Schapira, Alejandra María Ferrari, Norma Aspres, Ana Belén Guardiol, Ana Inés Antoniutti, Roxana Bedacarratz, Down Syndrome: An Assessment of Infant Psychomotor Development and Its Impact on Social and Familial Integration, International Medical Review on Down Syndrome, Volume 11, Issue 1, March 2007, Pages 2-8, ISSN 2171-9748, 10.1016/S2171-9748(07)70043-0.
  3. D.J. Fidler, Down Syndrome, In: Editors-in-Chief:  Marshall M. Haith and Janette B. Benson, Editor(s)-in-Chief, Encyclopedia of Infant and Early Childhood Development, Academic Press, San Diego, 2008, Pages 422-429, ISBN 9780123708779, 10.1016/B978-012370877-9.00053-0