by Dr. Aarohi Vachhrajani

Down’s Syndrome is an inherited, genetic chromosome 21 disorder which is responsible for intellectual and developmental disabilities. It is one of the most common disorders seen in children. Though it’s genetic, it can be managed by treatment but can’t get completely cured. There is no specific lab test or investigation required for Down’s Syndrome. Its symptoms itself suggest that the child is having Down’s Syndrome.

What Is Down’s Syndrome?


  • A genetic chromosome 21 disorder which occurred due to presence of an extra copy of chromosomes which is called Trisomy.
  • That’s why Down’s syndrome is otherwise known as Chromosome Trisomy 21 disorder.
  • This process is responsible for developmental and intellectual delays.

Down's syndrome


  • It occurs due to division of abnormal cells which results in extra genetic material in chromosome 21.
  • Though it’s a genetic disorder or it can be considered as childhood disorder, it can not get completely cured but if it’s treated properly at proper age it can be managed and the lifestyle of a child with down’s syndrome can get improved , even its education level also improved if the treatment started at proper time.


Life Span

  • The life competency of the person with down’s syndrome is from 10 years which gets extended up to 60 years.
  • The life span can depend upon the lifestyle and daily habits of the person.
  • Severity of syndrome can also affect the life span.
  • Intact if the treatment gets started at proper age and symptoms can get managed at proper age then also the life span can be long.


Some Facts About The Down’s Syndrome


  1. Down’s syndrome is not always an hereditary disorder, though it’s a genetic disorder but it’s not a completely hereditary disease.
  2. The female who is having down’s syndrome can have chances of normal babies.
  3. It is the most common intellectual genetic disorder among all.
  4. 1 baby over 700 babies having down’s syndrome.
  5. Younger age moms have more chances to have down’s syndrome in their babies.
  6. The women who are more than 35years also have more chances that their child is having down’s syndrome.
  7. The child who is having down’s syndrome have mild to moderate disability level and also they have a lesser IQ than normal children.
  8. They required a special educator or needed to go to a special school for further academics.


Types Of Down’s syndrome

  • There are mainly 3 types of Down’s syndrome.
  • They are following:
  1. Trisomy 21
  2. Mosaic Down’s syndrome
  3. Translocation Down’s syndrome


  • All these types are following:
  1. Trisomy 21
  • The most common type of Down’s syndrome.
  • It occurs generally in 95% cases.
  • A medical term of having an extra copy of chromosome can be known as Trisomy, that’s why this type of Down’s syndrome can known as “Trisomy 21” disorder.


  1. Mosaic Down’s syndrome
  • The most less occurring type of down’s syndrome.
  • Only 2% of children are having this type of down’s syndrome.


  1. Translocation Down’s syndrome
  • This is also less common.
  • Between 3-5% of children are having this type of Down’s syndrome.


Sign And Symptoms

Sign and Symptoms


  • Down’s syndrome has its own particular sign and symptoms.
  • They differ from others.
  • The appearance of a child with down’s syndrome says it all that the child is having down’s syndrome.
  • They are following:-
  1. Facial Appearance
  2. Delayed development
  3. Spots or Lazy Eye
  4. Low IQ level which includes difficulty in thinking and understanding.
  5. Learning disability
  6. Short structure
  7. Slurred speech or delayed speech
  8. Chances of having congenital heart disease and thyroid.
  9. Flaccid muscle structure
  10. Hearing loss
  11. Low immunity
  12. Obesity
  13. Breathing problems
  14. OPA ( Obstructive Skin Apnea)
  15. Having excessive skin on the back and neckDisorder
  16. Eating disorders
  17. Visual Disorder
  18. Their overall appearance makes them apart from normal children.
  • All these above mentioned were sign and symptoms of Down’s syndrome by which the one can be differentiated.





  • The diagnosis can be done in 2 ways.
  • They are following:
  1. Prenatal Diagnosis
  2. Postnatal Diagnosis
  • Except these two the diagnosis can be done on the basis of sign and symptoms also.
  1. Prenatal Diagnosis
  • This test can be done between 10to 13th week of pregnancy.
  • If the doctor can find any abnormality during ultrasound they go for this testing.
  • The test which is done to identify the Down’s syndrome is known as CVS ( Chorionic villus Sampling).
  • In this test the cells are taken from placenta and used to analyze the fetal chromosomes.
  1. Postnatal Diagnosis
  • If the prenatal diagnosis is not done at time then this can be done after the birth of the child.
  • The chromosomal analysis can be done after birth.
  • This process is called Karyotype.
  • This is also an important diagnostic test for Down’s Syndrome.
  • Both of them were the diagnostic tests for Down’s syndrome.
  • Above mentioned are the overview, sign and symptoms and diagnosis of Down’s syndrome .
  • If the child is having any symptoms like this then it’s better to concern the paediatric doctor as soon as possible.
  • Spread Awareness Not The Syndrome Because Every Child Is Special.
  • Read more on Green Stick Fracture – The Most Common Type of Fracture Occurs in Children