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Down syndrome

Down syndrome is a genetic disorder caused when abnormal cell division results in extra genetic material from chromosome 21. This genetic disorder, which varies in severity, causes lifelong intellectual disability and developmental delays, and in some people it causes health problems.

Down syndrome is the most common genetic chromosomal disorder and cause of learning disabilities in children.

Better understanding of Down syndrome and early interventions can greatly increase the quality of life for children and adults with this disorder and help them live fulfilling lives.

Symptoms Causes Risk factors Complications Prevention

Each person with Down syndrome is an individual — intellectual and developmental problems range from mild to moderate, and some people are healthy while others have severe health problems such as serious heart defects.

Children with Down syndrome have a distinct facial appearance. Though not all children with Down syndrome have the same features, some of the more common features are:

  • Flattened facial features
  • Small head
  • Short neck
  • Protruding tongue
  • Upward slanting eyes, unusual for the child's ethnic group
  • Unusually shaped or small ears
  • Poor muscle tone
  • Broad, short hands with a single crease in the palm
  • Relatively short fingers and small hands and feet
  • Excessive flexibility
  • Tiny white spots on the colored part (iris) of the eye called Brushfield spots
  • Short height

Infants with Down syndrome may be average size, but typically they grow slowly and remain shorter than other children the same age. In general, developmental milestones, such as sitting and crawling, occur at about twice the age of children without impairment.

Human cells normally contain 23 pairs of chromosomes. One chromosome in each pair comes from your father, the other from your mother.

Down syndrome results when abnormal cell division involving chromosome 21 occurs. These cell division abnormalities result in extra genetic material from chromosome 21, which is responsible for the characteristic features and developmental problems of Down syndrome. Any one of three genetic variations can cause Down syndrome:

  • Trisomy 21. About 95 percent of the time, Down syndrome is caused by trisomy 21 — the child has three copies of chromosome 21 (instead of the usual two copies) in all cells. This is caused by abnormal cell division during the development of the sperm cell or the egg cell.
  • Mosaic Down syndrome. In this rare form of Down syndrome, children have some cells with an extra copy of chromosome 21. This mosaic of normal and abnormal cells is caused by abnormal cell division after fertilization.
  • Translocation Down syndrome. Down syndrome can also occur when part of chromosome 21 becomes attached (translocated) onto another chromosome, before or at conception. These children have the usual two copies of chromosome 21, but they also have additional material from chromosome 21 attached to the translocated chromosome.

There are no known behavioral or environmental factors that cause Down syndrome.

Is it inherited?

Most of the time, Down syndrome isn't inherited. It's caused by a mistake in cell division during the development of the egg, sperm or embryo.

Translocation Down syndrome is the only form of the disorder that can be passed from parent to child. However, only about 4 percent of children with Down syndrome have translocation. And only about one-third of these children inherited it from one of their parents.

When translocations are inherited, the mother or father has some rearranged genetic material, but no extra genetic material — this means he or she is a balanced carrier. A balanced carrier has no signs or symptoms of Down syndrome, but he or she can pass the translocation on to children, causing extra genetic material from chromosome 21.

The chance of passing on the translocation depends on the sex of the parent who carries the rearranged chromosome 21:

  • If the father is the carrier, the risk is about 3 percent.
  • If the mother is the carrier, the risk is between 10 and 15 percent.

Some parents have a greater risk of having a baby with Down syndrome. Risk factors include:

  • Advancing maternal age. A woman's chances of giving birth to a child with Down syndrome increase with age because older eggs have a greater risk of improper chromosome division. By age 35, a woman's risk of conceiving a child with Down syndrome is about 1 in 350. By age 40, the risk is about 1 in 100, and by age 45, the risk is about 1 in 30. However, most children with Down syndrome are born to women under age 35 because younger women have far more babies.
  • Having had one child with Down syndrome. Typically, a woman who has one child with Down syndrome has about a 1 in 100 chance of having another child with Down syndrome.
  • Being carriers of the genetic translocation for Down syndrome. Both men and women can pass the genetic translocation for Down syndrome on to their children.

Children with Down syndrome can have a variety of complications, some of which become more prominent as they get older, such as:

  • Heart defects. About half the children with Down syndrome are born with some type of heart defect. These heart problems can be life-threatening and may require surgery in early infancy.
  • Leukemia. Young children with Down syndrome have an increased risk of leukemia.
  • Infectious diseases. Because of abnormalities in their immune systems, those with Down syndrome are much more at risk of infectious diseases, such as pneumonia.
  • Dementia. People with Down syndrome have a greatly increased risk of dementia — signs and symptoms may begin around age 50. Those who have dementia also have a higher rate of seizures. Having Down syndrome also increases the risk of developing Alzheimer's disease.
  • Sleep apnea. Because of soft tissue and skeletal changes that lead to the obstruction of their airways, children and adults with Down syndrome are at greater risk of obstructive sleep apnea.
  • Obesity. People with Down syndrome have a greater tendency to be obese compared with the general population.
  • Other problems. Down syndrome may also be associated with other health conditions, including gastrointestinal blockage, thyroid problems, early menopause, seizures, ear infections, hearing loss, skin problems such as psoriasis, skeletal problems and poor vision.

Life expectancy

Life spans have increased dramatically for people with Down syndrome. In 1910, a baby born with Down syndrome often didn't live to age 10. Today, someone with Down syndrome can expect to live to age 60 and beyond, depending on the severity of health problems.

There's no way to prevent Down syndrome. If you're at high risk of having a child with Down syndrome or you already have one child with Down syndrome, you may want to consult a genetic counselor before becoming pregnant.

A genetic counselor can help you understand your chances of having a child with Down syndrome. He or she can also explain the prenatal tests that are available and help explain the pros and cons of testing.

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