Down Syndrome

Down syndrome or Down's syndrome is a common chromosomal abnormality that occurs when a person has a part or a full extra copy of chromosome 21. It is also known as trisomy 21.

Down syndrome is the most common congenital anomaly involving a physical, mental, and functional issues. It includes increased risks of health problems due to the presence of a third gene instead of the normal two chromosomes 21.

Down syndrome is a genetic disorder resulting in alterations in facial appearance and health problems. Its symptoms can greatly vary from child to child, and some kids may need a lot of medical treatment, while others lead healthy lives.

Types of Down syndrome

There are three types of Down syndrome,

  • Trisomy 21
  • Translocation Down syndrome
  • Mosaic Down syndrome

Down syndrome symptoms

  • Distinctive facial features, such as
    • Small head
    • Flattened face
    • Short neck
    • Protruding tongue
    • Palpebral fissures - Upward slanting eye lids
  • Congenital heart defects
    • Atrioventricular septal defect (AVSD)
    • Ventricular septal defect (VSD)
    • Secundum atrial defect
    • Tetralogy of Fallot
    • Isolated PDA
  • Gastrointestinal (GI) abnormalities
    • Hirschsprung disease
    • Intestinal obstruction
    • Duodenal atresia
    • Imperforate anus
    • Gastroesophageal reflux (GERD)
    • Chronic constipation
    • Intermittent diarrhoea
    • Celiac disease
  • Hematological disorders
    • Transient abnormal myelopoiesis (TAM) or transient leukemia
    • Neutrophilia
    • Thrombocytopenia
    • polycythemia
  • Neurologic Disorders
    • Intellectual disability
    • Less concentration
    • Seizures
    • Myoclonic seizures
    • Lennox-Gestaut syndrome
    • Dementia
    • Alzheimer disease
    • Learning disability
    • Excessive flexibility
  • Endocrinological Disorders
    • Thyroid gland dysfunction
    • Hypothyroidism
    • Hyperthyroidism (rare)
    • Delayed puberty
    • Primary hypogonadism (in girls)
    • Cryptorchidism, micropenis, ambiguous genitalia, small testes low sperm count and less pubic hair. (in boys)
  • Musculoskeletal Disorders
    • Hypotonia (decreased muscle tone)
    • Decreased bone mass leading to increased risk of fractures.
    • Vitamin D deficiency
    • Growth retardation
    • Short height
    • Broad, short hands
    • Short fingers and small hands and feet
  • Refractive Errors and Visual Abnormalities
  • Otorhinolaryngological ( ENT) Disorders
Down Syndrome Symptoms

When to see a doctor?

If your child or someone you know has Down Syndrome and needs medical help, then get in touch with our healthcare experts. Our medical experts include developmental paediatricians, pediatric pulmonologists, neurologists, neurosurgeons, gastroenterologists, orthopaedic specialists, child psychiatrists, physical and occupational therapists, audiologists, and speech and language therapists.

Get in touch with our medical experts for more information and adequate medical help on Down’s Syndrome.

The causes of 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 concluding 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 additional 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

Risk factors include

Advancing maternal age

Women above 35 years of age possess a higher risk for giving birth to a child with Down syndrome.

Being a carrier of the Down syndrome genetic translocation

Both father and mother can pass on the genetic translocation for Down syndrome to their kids.

Having first child with Down syndrome

Parents who already have one child with Down syndrome and parents who have a translocation Down syndrome themselves have a higher chance of having another child with Down syndrome.

Complications -

  • Heart problems
  • Gastrointestinal (GI) problems
  • Immune system disorders
  • Obesity
  • Leukemia
  • Sleep apnea
  • Spinal problems
  • Dementia
  • Other health issues - dental problems, endocrine problems, ear infections, hearing and vision problems, and seizures.

Prevention for Down Syndrome

Down syndrome is not preventable, but parents can take a few precautions to avoid the occurrence of Down syndrome in their kids.

  • Parents can go for genetic testing to know whether they are carriers.
  • Women can lessen the risk of Down syndrome by giving birth before age 35. The older the mother, the more the chances of having a child with Down syndrome.


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.

Diagnostic tests

These can detect whether your 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

Down syndrome treatment

Down syndrome cannot be cured. But there is a multidimensional approach to the treatment of Down syndrome patients. A newborn child with suspicion of Down syndrome should undergo karyotyping to confirm the diagnosis. For genetic testing and counselling of both parents, the parents should contact a clinical geneticist.

One of the most important parts of Down syndrome care is parental education. Treatment is symptomatic and full recovery is not possible.

Down syndrome patients are more prone to having cataracts and thyroid problems, so they need to regularly have their eye and thyroid tests done.

Regular exercise and a balanced diet are needed for ideal growth and weight gain.

Early therapies include improving motor skills and also physical, speech, coordination, and/or educational skills. With the right treatment and support, individuals with Down syndrome can lead happy and productive lives.

Dos and Don’ts

Down syndrome or (trisomy 21) is a genetic condition characterized by the presence of an extra chromosome 21. This extra chromosome results in physical and mental disabilities in children.

Do’s Don’ts
Eat a balanced diet Avoid genetic testing
Regular physical exercise Neglect parental education
Cardiac check-up Ignore the need for eye and thyroid testing
Therapies to improve motor skills Ignore Down syndrome symptoms
Therapy to improve speech Prefer to have children after teh age of 35

There is no definite cure for Down syndrome. Treatment is mainly supportive, including parental education, improving motor skills, speech therapy, and health check-up as patients with Down syndrome are at high risk of developing health problems.

Down Syndrome Care at Medicover Hospitals

At Medicover hospitals, we have the most trusted team of developmental pediatricians, neurologists, neurosurgeons, orthopaedic specialists, child psychiatrists, and speech and language therapists to assist patients with Down syndrome. We are working together to provide excellent healthcare to our patients. Our team adopts a multi-faceted approach for managing Down syndrome and other genetic disorders with the active participation of healthcare experts from different specialities. We provide world-class healthcare services at affordable costs in all our departments to offer our customers high-quality treatment outcomes and satisfactory experiences


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Frequently Asked Questions

1. What is Down Syndrome?

Down Syndrome, medically termed Trisomy 21, is a genetic condition defined by an additional copy of chromosome 21 within an individual's cells. This surplus genetic material can give rise to a range of physical and intellectual difficulties.

2. How common is Down Syndrome?

Down Syndrome is relatively common, affecting approximately 1 in every 700 births, thus ranking as one of the most frequently occurring chromosomal disorders.

3. What causes Down Syndrome?

Down Syndrome is primarily caused by a genetic anomaly known as trisomy 21, where there is an extra copy of chromosome 21. It can occur spontaneously during cell division or be inherited from a parent with the condition.

4. What are the common physical characteristics of individuals with Down Syndrome?

Standard physical features may include almond-shaped eyes, a flattened facial profile, small ears, a single crease in the palm (known as a simian crease), and a short neck. However, the degree to which these features are present can vary significantly among individuals.

5. What are the intellectual and developmental challenges associated with Down Syndrome?

Individuals with Down Syndrome may experience varying degrees of intellectual and developmental delays. Early intervention, therapy, and educational support can help them reach their full potential.

6. Are people with Down Syndrome able to attend school and lead fulfilling lives?

Yes, with appropriate support and accommodations, many individuals with Down Syndrome attend school and lead fulfilling lives. Inclusion programs and specialized education can help them achieve their goals and participate in various activities.

7. Can Down Syndrome be detected before birth?

Prenatal diagnostic procedures, such as amniocentesis and chorionic villus sampling (CVS), can detect Down Syndrome in a developing fetus. Non-invasive screening tests, such as maternal serum screening and Ultrasound, can also provide an estimate of the risk.

8. Is there a cure for Down Syndrome?

There is no cure for Down Syndrome since it is a genetic condition. However, medical and therapeutic interventions can help manage associated health issues, and early intervention programs can support developmental progress.

9. What is the life expectancy of individuals with Down Syndrome?

The life expectancy of individuals with Down Syndrome has seen remarkable improvements. Many can reach their 60s or 70s and beyond with appropriate medical care and a health-conscious lifestyle.

10. How can I support individuals with Down Syndrome and their families?

You can support individuals with Down Syndrome and their families by promoting awareness and inclusion, advocating for equal opportunities, and offering your time and resources to organizations dedicated to helping those with Down Syndrome.