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Down syndrome is a genetic disorder caused by an extra copy of chromosome 21.

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This website is a great resource to gain information about down syndrome about relationships, therapies, post high schools, vision, and many more.

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Human Rights Organization for Individuals with Down syndrome

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" An estimated 6,000 babies are born with the condition in the U.S. every year, which equals about 1 in every 700 babies. There are about 200,000 people in the U.S. diagnosed with Down syndrome." Some behaviors of down syndrome include Stubbornness and tantrums, Obsessive or compulsive behaviors, Difficulty paying attention. Their care team consist of Primary care providers, Therapist of (medical specialists, speech, physical, occupational, behavioral).

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What are the symptoms of Down syndrome?

Down syndrome causes physical, cognitive and behavioral symptoms. Not all people with Down syndrome have all of these symptoms. Symptoms and their severity are different from person to person.

Physical signs of Down syndrome

Physical signs of Down syndrome are usually present at birth and become more apparent as your baby grows. They can include:

A flat nose bridge.

Slanted eyes that point upward.

A short neck.

Small ears, hands and feet.

Weak muscle tone at birth.

Small pinky finger that points inward towards the thumb.

One crease in the palm of their hand (palmar crease).

Shorter-than-average height.

As your child grows, additional symptoms can arise because of the way that their body developed in the uterus, including:

Ear infections or hearing loss.

Vision problems or eye diseases.

Dental problems.

Being more prone to infections or illnesses.

Obstructive sleep apnea.

Congenital heart disease.

Your child's healthcare provider will regularly check for these and other conditions that may cause additional symptoms throughout your child's life.

Cognitive symptoms of Down syndrome

Your child with Down syndrome may have cognitive development challenges as a result of their extra chromosome. This can cause intellectual or developmental disabilities. Your child's ability to meet developmental milestones, or things that your child can do at a certain age, may differ from other children, including how they:

Walk and move (gross and fine motor skills).

Speak (language development skills).

Learn (cognitive skills).

Play (social and emotional skills).

As a result, it may take your child longer to do the following things:

Toilet training.

Speaking their first words.

Taking their first steps.

Eating food independently.

Behavioral symptoms of Down syndrome

Your child diagnosed with Down syndrome may exhibit behavioral symptoms. This can be the result of your child not being able to communicate their needs to you or their caregivers effectively. Behavioral symptoms of Down syndrome could include:

Stubbornness and tantrums.

Difficulty paying attention.

Obsessive or compulsive behaviors.

What causes Down syndrome?

An extra chromosome causes Down syndrome. Each human cell typically contains 23 pairs of chromosomes, which totals 46. Down syndrome occurs because of changes in the way cells in chromosome 21 divide. Every person with Down syndrome has an extra chromosome 21 in some or all of their cells.

There are three types of Down syndrome with different causes, including:

What is trisomy 21?

Trisomy 21 is the most common type of Down syndrome. The term " trisomy " means having an extra copy of a chromosome. Trisomy 21 occurs when a developing fetus has three copies of chromosome 21 in every cell instead of the typical two copies. This type makes up 95% of all cases of Down syndrome.

What is translocation Down syndrome?

Translocation is a type of Down syndrome where there's a partial or full amount of chromosome 21 attached to another chromosome. Unlike trisomy 21, translocation occurs when chromosome 21 isn't separate, but it relocates to another numbered chromosome. This type of Down syndrome accounts for less than 4% of all cases.

What is mosaic Down syndrome?

Mosaic Down syndrome is the rarest type of Down syndrome and accounts for less than 1% of all cases. Mosaicism occurs when only some cells contain the usual 46 chromosomes and some cells contain 47. The extra chromosome in some cells is chromosome 21.

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Down syndrome is a genetic condition where a person has an extra copy of chromosome 21 for a total of 47 chromosomes instead of 46.

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Down Syndrome has many different symptoms that are physical, as well as intellectual and developmental. Down Syndrome also includes the risk of 50% having a heart defect. There are 3 types of Down Syndrome, Trisomy 21, Mosaic Down syndrome, and Translocation Down syndrome. Today the live expectancy is up to 60 years.

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Overview

Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. This extra genetic material causes the developmental changes and physical features of Down syndrome.

Down syndrome varies in severity among individuals, causing lifelong intellectual disability and developmental delays. It's the most common genetic chromosomal disorder and cause of learning disabilities in children. It also commonly causes other medical abnormalities, including heart and gastrointestinal disorders.

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

Each person with Down syndrome is an individual - intellectual and developmental problems may be mild, moderate or severe. Some people are healthy while others have significant health problems such as serious heart defects.

Children and adults with Down syndrome have distinct facial features. Though not all people with Down syndrome have the same features, some of the more common features include:

Flattened face

Small head

Short neck

Protruding tongue

Upward slanting eye lids (palpebral fissures)

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's 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.

Intellectual disabilities

Most children with Down syndrome have mild to moderate cognitive impairment. Language is delayed, and both short and long-term memory is affected.

When to see a doctor

Children with Down syndrome usually are diagnosed before or at birth. However, if you have any questions regarding your pregnancy or your child's growth and development, talk with your doctor.

Causes

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 an extra partial or full chromosome 21. This extra genetic material 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 person 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, a person has only 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 a portion 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 genetic material from chromosome 21 attached to another 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 early development of the fetus.

Translocation Down syndrome can be passed from parent to child. However, only about 3 to 4 percent of children with Down syndrome have translocation and only some of them inherited it from one of their parents.

When balanced translocations are inherited, the mother or father has some rearranged genetic material from chromosome 21 on another chromosome, but no extra genetic material. This means he or she has no signs or symptoms of Down syndrome, but can pass an unbalanced translocation on to children, causing Down syndrome in the children.

Risk factors

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. A woman's risk of conceiving a child with Down syndrome increases after 35 years of age. However, most children with Down syndrome are born to women under age 35 because younger women have far more babies.

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.

Having had one child with Down syndrome. Parents who have one child with Down syndrome and parents who have a translocation themselves are at an increased risk of having another child with Down syndrome. A genetic counselor can help parents assess the risk of having a second child with Down syndrome.

Complications

People with Down syndrome can have a variety of complications, some of which become more prominent as they get older. These complications can include:

Heart defects. About half the children with Down syndrome are born with some type of congenital heart defect. These heart problems can be life-threatening and may require surgery in early infancy.

Gastrointestinal (GI) defects. GI abnormalities occur in some children with Down syndrome and may include abnormalities of the intestines, esophagus, trachea and anus. The risk of developing digestive problems, such as GI blockage, heartburn (gastroesophageal reflux) or celiac disease, may be increased.

Immune disorders. Because of abnormalities in their immune systems, people with Down syndrome are at increased risk of developing autoimmune disorders, some forms of cancer, and infectious diseases, such as pneumonia.

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.

Spinal problems. Some people with Down syndrome may have a misalignment of the top two vertebrae in the neck (atlantoaxial instability). This condition puts them at risk of serious injury to the spinal cord from overextension of the neck.

Leukemia. Young children with Down syndrome have an increased risk of leukemia.

Dementia. People with Down syndrome have a greatly increased risk of dementia - signs and symptoms may begin around age 50. Having Down syndrome also increases the risk of developing Alzheimer's disease.

Other problems. Down syndrome may also be associated with other health conditions, including endocrine problems, dental problems, seizures, ear infections, and hearing and vision problems.

For people with Down syndrome, getting routine medical care and treating issues when needed can help with maintaining a healthy lifestyle.

Life expectancy

Life spans have increased dramatically for people with Down syndrome. Today, someone with Down syndrome can expect to live more than 60 years, depending on the severity of health problems.

Prevention

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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Down syndrome is a genetic disorder caused when abnormal cell division results in extra genetic material from chromosome 21.

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During a pregnancy a women could find out if there is a genetic problem with her child with an ultrasound and finding fluid around the neck of the child. If a doctor finds that then the next step is to get a Chorionic villus sampling, Amniocentesis, Percutaneous umbilical blood sampling. Those are all test that can find out if the child has down syndrome. Down Syndrome is a lifelong condition, but there are many different ways to help families and the child with living solutions.

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Centers for Disease Control and Prevention

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Down syndrome is a condition in which a person has an extra chromosome