Clinical characteristics of Down syndrome

The unique and diverse personalities and abilities of individuals with Down syndrome reflect their life opportunities and experiences, as well as genetic and health factors; generalisations and assumptions are unhelpful and often misleading.

Down syndrome can impact the development and function of every bodily system. People with Down syndrome may have a range of physical and clinical characteristics, including:

• intellectual disability—varies from mild to profound, with the majority falling within the moderate range
• a round face with a flat profile, almond shaped eyes with epicanthic folds, and a relatively small nose, mouth and ears
• small white or grey spots in the iris (Brushfield’s spots)
• flattening of the head over the occipital region (ie brachycephaly), and a short neck with excess skin at the back
• low muscle tone
• short fingers and hands with a single deep crease across the palm; small feet with a groove between the first and second toe.

Down syndrome is also associated with a number of common health problems.