Down Syndrome: Symptoms, Causes, Diagnosis and Treatment

Written by Medicover Team and Medically Reviewed by Dr Hema Swaroop Kurumella , Neurosurgeons

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1. Causes 2. Find a Doctor 3. Diagnosis 4. Treatment 5. FAQs

Down Syndrome is a genetic condition caused by the presence of an extra copy of chromosome 21 (trisomy 21), leading to characteristic physical features, developmental delays, and varying degrees of intellectual disability. Individuals with Down syndrome may also have associated heart defects, hearing or vision problems, and other health conditions. Early diagnosis, medical care, and supportive therapies are important to promote healthy development, improve independence, and enhance quality of life.

What are the Types of Down Syndrome?

Down Syndrome is classified according to the chromosomal abnormality responsible for the condition.

Trisomy 21

This is the most common form, in which every cell contains three copies of chromosome 21 instead of two.

Accounts for about 95% of cases
Occurs due to chromosomal nondisjunction
Usually not inherited

Translocation Down Syndrome

In this type, extra chromosome 21 material is attached to another chromosome. It may occur spontaneously or be inherited from a parent with a balanced translocation.

Accounts for about 3 to 4% of cases
May be inherited
Genetic counseling is recommended

Mosaic Down Syndrome

This rare form occurs when only some body cells contain an extra chromosome 21, while others have the typical number of chromosomes.

Accounts for about 1 to 2% of cases
Symptoms may be milder in some individuals
Clinical features vary depending on the proportion of affected cells

What are the Symptoms and Warning Signs of Down Syndrome?

The features of Down Syndrome vary from person to person. Some individuals have mild developmental delays, while others have associated medical conditions that require specialized care.

Early identification allows timely medical evaluation and developmental support.

Common Symptoms

Characteristic facial features, including upward-slanting eyes and a flat facial profile
Low muscle tone (hypotonia)
Developmental delay
Mild to moderate intellectual disability
Short stature
Single deep crease across the palm (single palmar crease)

Severe Symptoms

Congenital heart defects
Hearing or vision impairment
Severe feeding difficulties in infancy
Obstructive sleep apnea
Leukemia (rare but increased risk)
Atlantoaxial instability causing spinal cord compression in rare cases

What Causes Down Syndrome?

A child gets genetic material from its parents in the form of 46 chromosomes, mostly 23 from the father and 23 from the mother. Often, in Down syndrome, a baby inherits an extra chromosome 21, resulting in a total of 47 chromosomes instead of 46. In a few cases, the extra chromosome 21 gets attached to another chromosome.

This additional genetic material causes distinctive physical features and developmental disabilities in Down syndrome individuals. The characteristics are the same if the extra chromosome is by itself or attached to another one. Any one of the below-given genetic variations can have Down syndrome.

Trisomy 21
Mosaic Down syndrome
Translocation Down syndrome

When to See a Doctor for Down Syndrome?

Infants with features suggestive of Down Syndrome or developmental delays should be evaluated by a Pediatrician or Neurosurgeons. Individuals with Down Syndrome also require regular medical follow-up to monitor associated health conditions.

You should see a doctor if your child has:

Delayed developmental milestones
Poor feeding or slow growth
Hearing, vision, or speech concerns

Seek immediate medical attention if your child:

Develops severe breathing difficulty or cyanosis
Shows signs of a congenital heart problem, such as poor feeding with excessive sweating
Experiences seizures, severe lethargy, or symptoms of spinal cord compression

These symptoms may indicate serious associated medical conditions requiring urgent evaluation and treatment.

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How is Down Syndrome Diagnosed?

Pregnant women of all ages should undergo screening tests and diagnostic tests to diagnose Down syndrome

Screening Tests: These tests can indicate the possibility that a mother is carrying a child with Down syndrome. The screening tests can't accurately show whether the baby has Down syndrome.
Screening Tests During Pregnancy: Screening tests are used to identify the risk of carrying a Down syndrome baby. These tests can help to make decisions about other, more specific diagnostic tests.
Screening Tests Include :
- Nuchal translucency testing
- The triple screen or quadruple screen (multiple marker test)
- Integrated screen
- An ultrasound
- Cell-free fetal DNA analysis
Diagnostic Tests Include :
- Chorionic villus sampling (CVS)
- Amniocentesis
- Percutaneous umbilical blood sampling (PUBS) or cordocentesis

What is the Treatment for Down Syndrome?

Down syndrome cannot be cured but can be managed with a multidimensional approach.
Newborns suspected of Down syndrome should undergo karyotyping for diagnosis confirmation.
Genetic testing and counseling for both parents are recommended.
Early therapies focus on improving motor, speech, coordination, and educational skills.
Proper treatment and support enable individuals with Down syndrome to lead happy and productive lives.

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What is the Recovery Process for Down Syndrome?

Down syndrome is a lifelong condition, so management focuses on continuous support and development.

Early therapy to improve motor and communication skills.
Regular medical follow-ups.
Special education and learning support.
Social and emotional support.
With proper care, individuals can lead independent and productive lives.

Frequently Asked Questions

1. What is life expectancy for Down Syndrome?

The life expectancy for individuals with Down syndrome has increased significantly in recent years and now averages around 60 years, with many living into their 60s and beyond, thanks to advances in medical care and support services.

2. What are people with Down syndrome like?

People with Down syndrome have unique abilities, personalities, and interests, just like anyone else. They may have intellectual disabilities, but they also have strengths and talents, and they can lead fulfilling lives with appropriate support and opportunities.

3. Is Down syndrome curable?

Down syndrome is a genetic condition caused by the presence of an extra chromosome 21 and currently has no cure. However, medical advancements and early interventions can help manage associated health issues and support individuals in reaching their full potential.

4. What medical conditions are common in Down syndrome?

Individuals with Down syndrome may be at higher risk for certain medical conditions, including congenital heart defects, hearing and vision problems, thyroid disorders, and gastrointestinal issues. Regular medical screenings and interventions can help manage these conditions effectively.

5. What causes down syndrome?

Down syndrome is caused by the presence of an extra copy of chromosome 21, typically occurring randomly during cell division. This extra genetic material leads to the physical and developmental characteristics associated with the condition.

6. What is the best treatment for Down syndrome?

Treatment for Down syndrome focuses on managing symptoms and supporting development. Early intervention therapies, educational programs, and medical care tailored to individual needs are key in down syndrome treatment.

7. What are the three types of Down syndrome?

The three types of Down syndrome are Trisomy 21 (the most common), Translocation Down syndrome, and Mosaic Down syndrome. Each type results from a different genetic variation causing types of down syndrome.