Down Syndrome – At first glance

Down Syndrome – At first glance

Once many parents get the diagnosis that their child has Down Syndrome they tend to do some research. What does this mean for my baby and his/her future?  Usually you find the following;

Down syndrome is a chromosomal condition where every cell in the human body has an extra chromosome on the 21st trisomy. We know why it occurs but not how, although it does occur at conception when the oocyte begins to divide. It happens across all ethnic and social groups, in all ages although is more common with older women. There are common features but most children will have some but not all features. Intellectual capacity is not reflected in physical features.

Common features include;


  • Altered physical appearance
    • 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 – sandal gap.
    • Middle bone 5th finger missing, may be shorter and curved in.
  • Cognitive impairment – usually ranges from mild to moderate.
  • Other common cognitive and behavioral problems may include;
    • Short attention span
    • Poor judgment
    • Impulsive behaviour
    • Slow learning
    • Delayed language and speech development

    People with Down syndrome are at increased risk for a range of other health conditions, including

    • Autism spectrum disorders
    • Alzheimers dementia
    • Problems with hormones and glands
    • Hearing loss
    • Vision problems
    • Heart abnormalities
    • Coeliac disease
    • Hypothyroidism – Hashimotos thyroiditis
    • Digestive problems – structural and functional
    • Immune system disorders
    • Epilepsy
    • Gum disease and dental problems
    • Sleep apnoea
    • Problems with upper part of spine
    • Blood disorders – Leukaemia
    • Hypo sensitive to pain
    • Hypo sensitive to taste

      Your child may exhibit many or just a few of these features.  



Medical Problems Common in Down Syndrome

Condition                                                                %

Hearing problems                                                 75

Vision problems                                                    60

Cataracts                                                               15   

Refractive errors                                                  50

Obstructive sleep apnea                                       50–75

Otitis media                                                          50–70

Congenital heart disease                                      40–50

Hypodontia and delayed dental eruption            23

Gastrointestinal atresias                                       12

Thyroid disease                                                      4–18

Seizures                                                                  1–13

Hematologic problems

Anemia                                                                   3

Iron deficiency                                                       10

Transient myelo-proliferative disorder               10

Leukemia                                                                1

Coeliac disease                                                      5

Atlantoaxial instability                                         1-2

Autism                                                                    1  

Hirschsprung disease                                         < 1

Alzheimers                                                          40-49 years of age, 5.7-55%


So there is a lot going on, but rarely is the why addressed. And without addressing the why, we are helpless to improve our child’s outcomes and reduce the incidence of developing the above conditions.

So lets take a deeper look. Trisomy 21 – A deeper look