Down Syndrome

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Down Syndrome: Types, Causes & Symptoms

Down syndrome is a congenital non-pathological condition resulting from an extra chromosome and causing delays in mental and physical development. It varies in severity and leads to mental disability and developmental delay. There is no evidence that environmental factors or any specific practices cause Down syndrome before or during pregnancy.

Other names: 21 Trisomy - Mongolism - Mongolia

1.0Types of Down Syndrome:

Trisomy 21: This is the most common type, accounting for about 95% of cases. In this form, an individual has three full copies of chromosome 21 in every cell, instead of the usual two.
Mosaic Down Syndrome: A rare form that occurs when some cells have an extra chromosome 21 while others have the typical two copies. This results from abnormal cell division after fertilization.
Translocation Down Syndrome: In this type, the person has two standard copies of chromosome 21, but a portion of one chromosome 21 is attached (translocated) to a different chromosome. This type can sometimes be inherited.

2.0Cause

Humans usually have 23 pairs of chromosomes, with one set inherited from each parent.
Down syndrome arises when there is a complete or partial extra copy of chromosome 21, leading to a range of physical and intellectual challenges.
The exact reason for this additional genetic material is still not fully understood.

Risk factors

Any pregnancy has a slight risk of delivering a child with Down syndrome, but the risk increases as the mother ages.

3.0Symptoms

There are distinguishing traits, although some individuals may not exhibit them. The most common are:
Short stature and neck.
Flattened face and occiput.
Small head, ears and mouth.
Upward slanting eyes with a more minor palpebral fissure.
Weak muscles.
Short fingers, small hands and feet.

Complications

People with Down syndrome are more likely to have specific health problems, including:
Heart diseases (such as congenital heart diseases).
Hearing and vision problems.
Thyroid problems (such as hypothyroidism).
Recurrent infections (such as pneumonia).
Sleep apnea.
Obesity.
Spinal problems.
Mental illnesses.

4.0Diagnosis

Before birth

Screening Tests: Ultrasound and blood tests. Most screening tests measure amounts of different substances in the mother's blood.
Diagnostic Tests: Sometimes a child is diagnosed with Down syndrome during pregnancy when screening tests indicate the likelihood of having the syndrome. Other tests can be carried out, including:
Taking a small sample of the placenta is usually done in the first trimester between the 11th and 14th weeks of pregnancy.
Amniotic fluid testing is typically conducted between the 15th and 20th weeks of pregnancy. Prenatal screening and diagnostic tests are commonly offered to women of all age groups as part of routine care.

At birth

Down syndrome is usually detected by the presence of certain physical traits in newborns. Chromosome analysis or "karyotyping" is carried out to confirm the diagnosis using a blood sample.

Treatment

Although there is no cure for Down syndrome, early intervention in infants and children can significantly improve their quality of life, as evidenced by the differences observed among patients and the individualised nature of treatment, which depends on the patient's needs to develop their potential.
Each stage of life may require different services.

Prevention

There is no way to prevent Down syndrome, but when there are risk factors, a person may need to consult a genetic counsellor before pregnancy.

Frequently Asked Questions

Join ALLEN!

(Session 2026 - 27)

Name

Mobile Number

Class

Choose class

Goal

Choose your goal

Preferred Programs

Preferred Mode

State

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I agree to

I authorise ALLEN Career Institute Pvt Ltd to send me regular updates via Phone calls, Whatsapp, SMS, Robocalls (Automated Calls), Emails, or on postal address.

Down Syndrome: Types, Causes & Symptoms

Down syndrome is a congenital non-pathological condition resulting from an extra chromosome and causing delays in mental and physical development. It varies in severity and leads to mental disability and developmental delay. There is no evidence that environmental factors or any specific practices cause Down syndrome before or during pregnancy.

Other names: 21 Trisomy - Mongolism - Mongolia

1.0Types of Down Syndrome:

Trisomy 21: This is the most common type, accounting for about 95% of cases. In this form, an individual has three full copies of chromosome 21 in every cell, instead of the usual two.
Mosaic Down Syndrome: A rare form that occurs when some cells have an extra chromosome 21 while others have the typical two copies. This results from abnormal cell division after fertilization.
Translocation Down Syndrome: In this type, the person has two standard copies of chromosome 21, but a portion of one chromosome 21 is attached (translocated) to a different chromosome. This type can sometimes be inherited.

2.0Cause

Humans usually have 23 pairs of chromosomes, with one set inherited from each parent.
Down syndrome arises when there is a complete or partial extra copy of chromosome 21, leading to a range of physical and intellectual challenges.
The exact reason for this additional genetic material is still not fully understood.

Risk factors

Any pregnancy has a slight risk of delivering a child with Down syndrome, but the risk increases as the mother ages.

3.0Symptoms

There are distinguishing traits, although some individuals may not exhibit them. The most common are:
Short stature and neck.
Flattened face and occiput.
Small head, ears and mouth.
Upward slanting eyes with a more minor palpebral fissure.
Weak muscles.
Short fingers, small hands and feet.

Complications

People with Down syndrome are more likely to have specific health problems, including:
Heart diseases (such as congenital heart diseases).
Hearing and vision problems.
Thyroid problems (such as hypothyroidism).
Recurrent infections (such as pneumonia).
Sleep apnea.
Obesity.
Spinal problems.
Mental illnesses.

4.0Diagnosis

Before birth

Screening Tests: Ultrasound and blood tests. Most screening tests measure amounts of different substances in the mother's blood.
Diagnostic Tests: Sometimes a child is diagnosed with Down syndrome during pregnancy when screening tests indicate the likelihood of having the syndrome. Other tests can be carried out, including:
Taking a small sample of the placenta is usually done in the first trimester between the 11th and 14th weeks of pregnancy.
Amniotic fluid testing is typically conducted between the 15th and 20th weeks of pregnancy. Prenatal screening and diagnostic tests are commonly offered to women of all age groups as part of routine care.

At birth

Down syndrome is usually detected by the presence of certain physical traits in newborns. Chromosome analysis or "karyotyping" is carried out to confirm the diagnosis using a blood sample.

Treatment

Although there is no cure for Down syndrome, early intervention in infants and children can significantly improve their quality of life, as evidenced by the differences observed among patients and the individualised nature of treatment, which depends on the patient's needs to develop their potential.
Each stage of life may require different services.

Prevention

There is no way to prevent Down syndrome, but when there are risk factors, a person may need to consult a genetic counsellor before pregnancy.

Frequently Asked Questions

What are the common symptoms?

How is Down Syndrome diagnosed?

Can Down Syndrome be cured?

What is the life expectancy of a person with Down Syndrome?

Do people with Down Syndrome go to school and work?

Can Down Syndrome be prevented?

Join ALLEN!

Down Syndrome: Types, Causes & Symptoms

1.0Types of Down Syndrome:

2.0Cause

3.0Symptoms

4.0Diagnosis

Table of Contents

Frequently Asked Questions

What are the common symptoms?

How is Down Syndrome diagnosed?

Can Down Syndrome be cured?

What is the life expectancy of a person with Down Syndrome?

Do people with Down Syndrome go to school and work?

Can Down Syndrome be prevented?

Join ALLEN!

Down Syndrome: Types, Causes & Symptoms

1.0Types of Down Syndrome:

2.0Cause

3.0Symptoms

4.0Diagnosis

Table of Contents