Down Syndrome Factsheet

Download Factsheet PDF

Down Syndrome is a congenital condition where extra genetic material results in
physical characteristics, developmental delay and some intellectual disability.

Everyone with Down syndrome will experience some form of disability, but the extent
and specific areas of delay vary between individuals.

The syndrome occurs because of an extra copy of chromosome 21, but the cause of
Down syndrome is unknown.

Physical characteristics

Despite the physical characteristics associated with Down syndrome, there is a large
variation in how many of these features an individual has, and their prominence.

The most common physical features include

• Low muscle tone
• Slight upward slant of the eyes, epicanthic folds
• Small white patches on the iris of the eye (Brushfield spots)
• Rounded face that tends to have a flat profile
• Smaller stature
• Speech difficulties

Health concerns

People with Down syndrome have an increased risk of certain medical problems, such
as:

• Congenital heart defects (approximately 50 per cent of children with Down syndrome are born with these)
• Eye problems
• Hearing loss
• Childhood leukemia
• Dementia
• Lowered immune system compared to the general population

However, while some have health issues, a diagnosis of Down syndrome does not mean
they are not able to live a fit, healthy life.

Capabilities and potential

Down syndrome affects, but does not determine, development and achievement in a
person.

People with Down syndrome demonstrate a range of capabilities, and what happens
after birth is far more important in shaping the outlook than the occurrence of an extra
chromosome.

While some may need more support than others, most people growing up with Down
syndrome can achieve and participate as valued members of their community.

How can Just Better Care help?

Life expectancy for people with Down syndrowm has increased significantly in the last
40 years with many now living beyond the sixth decade. There is also evidence that
Alzheimer’s disease can occur giving the individual a dual diagnosis.

Just Better Care can offer assistance with services including respite care, transportation
and lifestyle support. Some individuals may have support with managing their activities
of daily living including personal care and help in the home.

References

ACT Down Syndrome Association
Down Syndrome Association of Queensland Inc
Down Syndrome Association NSW
Down Syndrome Victoria
Better Health Channel
Down Syndrome Association of Victoria