What is Down syndrome?

Down syndrome is a genetic condition caused by abnormal cell division in the egg, sperm, or fertilized egg. This results in an extra or irregular chromosome in some or all of the body's cells, causing varying levels of intellectual disability and physical problems.

Down syndrome is also called trisomy 21, for the specific chromosome that has the abnormality. A person with Down syndrome has three copies of chromosome 21. Normally, a person has two copies.

Down syndrome usually can be detected during pregnancy or soon after birth. Chromosome (karyotype) tests and how a baby looks can help make a diagnosis.

Babies usually have distinctive facial characteristics, such as upward-sloping eyes and a flattened nose. People with Down syndrome have an increased risk of being born with or developing health problems. For example, some babies with Down syndrome are born with heart, intestinal, ear, or respiratory defects. These health conditions often lead to other problems, such as respiratory infections, sleep apnea, or hearing problems. Other health issues, such as vision trouble or problems with thyroid function, can also develop.

Children with Down syndrome grow and develop more slowly than other children. But most are able to attend school, play sports, socialize, and enjoy active lifestyles. Unless their disabilities are severe, adults with Down syndrome can care for most of their own needs. Many people who have Down syndrome live into their 50s and some into their 60s or older.

 

Down syndrome is a chromosomal disorder that results in some degree of mental retardation. It occurs in 1 out of every 660 births and is diagnosed in utero or at birth. Symptoms vary widely from child to child.

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Down syndrome, also called Down's syndrome or Downs syndrome, is a genetic disorder that is characterized by distinct physical characteristics and varying degrees of cognitive dysfunction that range from mild to severe. Cognitive disabilities occur when a person has difficulty thinking, processing, and storing information in order to solve problems. Some individuals may live independently as adults, while others may require long-term care and support.

Even though Down syndrome is a genetic condition, it is not usually inherited from parents. Most cases occur spontaneously before or during conception. One of the biggest risk factors of Down syndrome is the mother's age when she conceives. Females who are 35 years and older are most likely to have abnormal eggs that may lead to Down syndrome. However, because most women have children before this age, it is not considered the leading cause of the disorder.

Researchers estimate that about 6,000 babies are born with Down syndrome each year in the United States. Gender, race, and ethnicity do not appear to play a role in the development of the disorder.

In 1929, many children born with Down syndrome did not live to be older than 10 years of age. This is because patients with Down syndrome have an increased risk of developing heart defects, leukemia, infectious diseases, and other potentially life-threatening conditions.

Today, however, patients can expect to live to be 50 years of age or older, depending on the severity of related health problems. Although there is no cure for Down syndrome, early treatment has been shown to increase patients' long-term prognoses. Early intervention and proper care has also been shown to help Down syndrome patients develop into independent adults.

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Down syndrome is an abnormality of the chromosomes and the most common cause of mental retardation among infants. Down syndrome is characterized by certain medical problems such as congenital heart defects. There is a range of severity of Down syndrome, ranging from those with mild disability to severe.