Clinical Features and Life Expectancy of Down Syndrome

Clinical Features of Down syndrome

• Dr Langdon Down described the characteristics of Down syndrome as a resemblance to those of the Mongolian race.
• The extra chromosome can cause problems in every cell of the body and thus features are distinguished in a wide range of areas.
• There are over 50 physical characteristics that can be found in people who have Down syndrome, No person with Down syndrome will have all the characteristics described.

Some common traits

• low muscle tone
• eyes may have an upward and outward slant
• small white patches on the edge of the iris of the eye
• ears tend to be small and low set
• jaw bone and mouth can appear to be small; the tongue can have less space and protrude
• legs and arms are often shorter in relation to the torso
• hands are often short and stubby; tip of the little finger may turn inwards
• may be a cleft between the first and second toes
• genitals may be small
• skin may have a spotted appearance
• hair is sometimes fine and straight
• teeth may be slightly smaller and do not appear in normal ‘order’
• delay in reaching milestones, eg. sitting, crawling, talking, toileting, etc

Life Expectancy

• As late as 1927 80% of children died before reaching 6 years of age and even in 1960, 60% of children still died before 5 years old.
• However, medical research has totally changed the quality of health of people with Down syndrome and today, the average life expectancy of a person with Down syndrome is 55+, with some people living into their 80's.