Down syndrome

Rating : 12345
Rate This Article : 1 2 3 4 5
G J 4
A -A +


Down syndrome or trisomy 21 is a congenital disorder. It can be diagnosed through karyotyping but has no cure.

Down syndrome (DS) is a congenital disorder that was first described as early as 1866 by Langdon Down, a London - based physician.

It was earlier referred to as 'mongolism' (based on the facial features of the affected individuals) - a term that is discouraged from being used today. It is also known as 'Up syndrome' because of the cheerful persona of the Down children.

Lejune and co workers (1959) were the first to report the presence of an extra chromosome 21(trisomy 21) in the cells of DS individuals - a landmark in the field of congenital disorders in general and, in the area of cytogenetics in particular.

Over 90% of the DS cases result from classical trisomy 21 while the remaining 10% may exhibit mosaicism or translocations (rearrangements) involving chromosomes 14 and 21.

Down syndrome is the most common genetic cause of mental retardation and is also credited to be the most common chromosomal abnormality among new borns. The condition occurs as one in every 600-800 live births.

Down Syndrome

IQ is known to vary between 30-50.

It has been widely reported that DS children are more commonly born to older mothers - but in a country like India too, where women get married and produce children at an early age, this condition is equally prevalent as anywhere else in the world.

Couples who already have a DS child have increased chances of recurrence compared to the general population.

DS children are immuno-deficient and, therefore, it was common for them to die at infancy as they are easily susceptible to infectious diseases. But in the recent years, with the development of life saving drugs, death among DS population is on the decline.

Down syndrome predisposes the affected to certain cancers. These individuals are at a 20-fold increased risk to develop leukemia in comparison to other individuals. It has been proposed that altered function of genes on chromosome 21 leads to altered hemopoiesis thereby predisposing the trisomic children to develop leukemia.

Cardiovascular deaths appear in 40% of DS individuals contributing to the increased number of their deaths in infancy.

Gastrointestinal malformations and congenital hematological abnormalities are also more common in them.

Fertility is uncommon in DS males (2 cases reported thus far), while pregnancies among females have been reported.

DS is a genetic disorder and therefore incurable. However the clinical complications arising from this condition can be efficiently managed.

You May Also Like

View All

Show More Related Topics y


Post your Comments

Comments should be on the topic and should not be abusive. The editorial team reserves the right to review and moderate the comments posted on the site.
User Avatar
* Your comment can be maximum of 2500 characters
Notify me when reply is posted I agree to the terms and conditions
Yes, If we diagnosis the down syndrome at early stage we can improve the Longevity and Metformin also a good medicine in this same category who treats Type II diabetes and effective in weight loss treatment also.
johncenawwe Wednesday, April 18, 2012
mr Ram, i am a new member,i found your words nothing is impossible in this fast developing world, gives me more confidence
sanjitta Tuesday, August 23, 2011
Physio therapy,speech therapy, occupational and behavioural therapies are needed to speed up the mile stones in the growth of DS children. Homoeo treatment also helps in improving their brain related functioning.DS children will be very affectionate and very cute. Treatment/therapies should be started as early as possible to get better results. Hope, a day will come, when Down Syndrome in children and adults will be permanently cured. Nothing is impossible in this fast developing world because of the technological innovations made possbile by computers etc.
Rammohan.R Friday, June 10, 2011

Ask an Expert

If you have a question about health related issues, you can now post it in our Ask An Expert section on our community website and get answers from our panel of experts.

Join Our Online Health Community:

Recommended Groups Members Related Discussions
By registering with Medindia you become part of our global health community. Make new friends and share and discuss your health issues, with 199798 other members across 445 support groups.