Down syndrome symptoms

What is Down syndrome? Down syndrome (sometimes called Down’s syndrome) is a condition in which a child is born with an extra copy of their 21st chromosome — hence its other name, trisomy 21. This causes physical and mental developmental delays and disabilities. Many of the disabilities are lifelong, and they can also shorten life expectancy. However, people with Down syndrome can live healthy and fulfilling lives. Recent medical advances, as well as cultural and institutional support for people with Down syndrome and their families, provides many opportunities to help overcome the challenges of this condition. In all cases of reproduction, both parents pass their genes on to their children. These genes are carried in chromosomes. When the baby’s cells develop, each cell is supposed to receive 23 pairs of chromosomes, for 46 chromosomes total. Half of the chromosomes are from the mother, and half are from the father. In children with Down syndrome, one of the chromosomes doesn’t separate properly. The baby ends up with three copies, or an extra partial copy, of chromosome 21, instead of two. This extra chromosome causes problems as the brain and physical features develop. According to the There are three types of Down syndrome: Trisomy 21 Trisomy 21 means there’s an extra copy of chromosome 21 in every cell. This is the most common form of Down syndrome. Mosaicism Translocation In this type of Down syndrome, children have only an extra part of chromosome 21. There are 46 t...

• Trisomy 21: This is the most common type of Down syndrome. It occurs when a person has three copies of chromosome 21 in each cell of their body. A person's typical number of • Mosaic Down syndrome: This type of Down syndrome occurs when there is a mixture of some cells in the body with trisomy 21 and some cells in the body without an extra chromosome 21. The symptoms can be similar to symptoms of full trisomy 21, but sometimes the effects are milder. It is seen in about 2% of people diagnosed with Down syndrome. • Translocation: This type occurs when a person has extra chromosome 21 genetic material attached to another chromosome. With this type of Down syndrome, the person may have 46 chromosomes in their cells. About 3% of people diagnosed with Down syndrome have this type. Down Syndrome and Genetics The genetic pattern of Down syndrome occurs due to the presence of an extra copy of chromosome 21 in the parents' egg cell or sperm cell. A child should normally receive only one copy of each chromosome from each parent—resulting in two copies of each chromosome in every one of the child’s cells. Down syndrome affects approximately 1 out of every 675 live births. What Are the Symptoms of Down Syndrome? Several characteristic physical changes and symptoms occur due to Down syndrome. These changes are often recognizable at birth, but some children might not have obvious features until early childhood. Living With Down Syndrome Living with Down syndrome is a challenge for the...

• A round face, with a flat profile and small nose and mouth • A large tongue that may protrude from the mouth • Almond-shaped eyes with skin that covers the inner eye ( epicanthus folds) • White flecks in the colored part of the eyes (Brushfield spots) • Small ears • A small head that's somewhat flat in the back ( brachycephaly) • Short neck • Clinodactyly: A single crease across the palm of each hand (normally there are two), short stubby fingers, and a pinky finger that curves inward • Small feet with a larger than normal space between the big and second toes • Short, stocky build: At birth, children with Down syndrome usually are average size, but tend to grow at a slower rate and remain smaller than other kids their age. It's also common for people with Down syndrome to be overweight. • Slow development of motor skills: Delays in reaching milestones that allow a child to move about, walk, and use their hands and mouth can lower their opportunities to explore and learn about the world. This can affect cognitive and language skill development. • Expressive language, grammar, and speech clarity: Most children with Down syndrome are slow to master sentence structure and grammar, due to delayed language comprehension. They know what they want to say but have trouble speaking clearly, which leads to frustration and, sometimes, behavior problems. It also means their cognitive abilities can be underestimated. • Number skills: Most children with Down syndrome find it harder to...

Diagnosis The American College of Obstetricians and Gynecologists recommends offering the option of screening tests and diagnostic tests for Down syndrome to all pregnant women, regardless of age. • Screening tests can indicate the likelihood or chances that a mother is carrying a baby with Down syndrome. But these tests can't tell for sure or diagnose whether the baby has Down syndrome. • Diagnostic tests can identify or diagnose whether your baby has Down syndrome. Your health care provider can discuss the types of tests, advantages and disadvantages, benefits and risks, and the meaning of your results. If appropriate, your provider may recommend that you talk to a genetics counselor. Screening tests during pregnancy Screening for Down syndrome is offered as a routine part of prenatal care. Although screening tests can only identify your risk of carrying a baby with Down syndrome, they can help you make decisions about more-specific diagnostic tests. Screening tests include the first trimester combined test and the integrated screening test. The first trimester combined test The first trimester combined test, which is done in two steps, includes: • Blood test. This blood test measures the levels of pregnancy-associated plasma protein-A (PAPP-A) and the pregnancy hormone known as human chorionic gonadotropin (HCG). Abnormal levels of PAPP-A and HCG may indicate a problem with the baby. • Nuchal translucency test. During this test, an ultrasound is used to measure a specif...

Down syndrome is a genetic condition where a person is born with an extra copy of chromosome 21. This means that they have a total of 47 chromosomes instead of 46. This can affect how their brain and body develop. People diagnosed with Down syndrome have happy and healthy lives with supportive care. Overview Down syndrome can affect how your child develops. Physical signs become more apparent as your child grows. What is Down syndrome? Down syndrome is a genetic condition where people are born with an extra Who does Down syndrome affect? Down syndrome can affect anyone. It’s a What are the risk factors for Down syndrome? Research is ongoing to learn more about the risk factors of Down syndrome. Studies suggest that the risk of giving birth to a child with Down syndrome increases as the birthing parent ages. Women or people assigned female at birth (AFAB) who are 35 or older are more likely to have a child diagnosed with Down syndrome or another type of genetic condition. Since people AFAB younger than 35 have higher fertility rates, most babies with Down syndrome are born to people under 35. How common is Down syndrome? Down syndrome is the most common chromosome-related condition in the United States. 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. Symptoms and Causes What are the symptoms of Down syndrome? Down syndrome causes p...

It’s easy to fall into thinking that everyone with For some people, the effects are mild. They may hold jobs, have romantic No matter what symptoms a person with Down syndrome has, early treatment is key. With the right care to develop physical and mental skills -- and treat medical issues -- children with Down syndrome have a much better chance to reach their full abilities and live meaningful lives. Physical Symptoms It varies, but people with Down syndrome often share certain physical traits. For facial features, they may have: • • Flatter faces, especially the nose • Small ears, which may fold over a bit at the top • Tiny white spots in the colored part of their • A They may have small hands and feet with: • A crease that runs across the palm of the hand • Short fingers • Small pinkies that curve toward the thumbs They may also have: • Low muscle tone • Loose joints, making them very flexible • Short height, both as children and adults • Short neck • Small head At birth, babies with Down syndrome are often the same size as other babies, but they tend to grow more slowly. Because they often have less muscle tone, they may seem floppy and have trouble holding their heads up, but this usually gets better with time. Low muscle tone can also mean babies have a hard time sucking and feeding, which can affect their Mental and Physical Symptoms Down syndrome also affects a person’s ability to think, reason, understand, and be social. The effects range from mild to moderate. Ch...

It’s easy to fall into thinking that everyone with For some people, the effects are mild. They may hold jobs, have romantic No matter what symptoms a person with Down syndrome has, early treatment is key. With the right care to develop physical and mental skills -- and treat medical issues -- children with Down syndrome have a much better chance to reach their full abilities and live meaningful lives. Physical Symptoms It varies, but people with Down syndrome often share certain physical traits. For facial features, they may have: • • Flatter faces, especially the nose • Small ears, which may fold over a bit at the top • Tiny white spots in the colored part of their • A They may have small hands and feet with: • A crease that runs across the palm of the hand • Short fingers • Small pinkies that curve toward the thumbs They may also have: • Low muscle tone • Loose joints, making them very flexible • Short height, both as children and adults • Short neck • Small head At birth, babies with Down syndrome are often the same size as other babies, but they tend to grow more slowly. Because they often have less muscle tone, they may seem floppy and have trouble holding their heads up, but this usually gets better with time. Low muscle tone can also mean babies have a hard time sucking and feeding, which can affect their Mental and Physical Symptoms Down syndrome also affects a person’s ability to think, reason, understand, and be social. The effects range from mild to moderate. Ch...

What is Down syndrome? Down syndrome (sometimes called Down’s syndrome) is a condition in which a child is born with an extra copy of their 21st chromosome — hence its other name, trisomy 21. This causes physical and mental developmental delays and disabilities. Many of the disabilities are lifelong, and they can also shorten life expectancy. However, people with Down syndrome can live healthy and fulfilling lives. Recent medical advances, as well as cultural and institutional support for people with Down syndrome and their families, provides many opportunities to help overcome the challenges of this condition. In all cases of reproduction, both parents pass their genes on to their children. These genes are carried in chromosomes. When the baby’s cells develop, each cell is supposed to receive 23 pairs of chromosomes, for 46 chromosomes total. Half of the chromosomes are from the mother, and half are from the father. In children with Down syndrome, one of the chromosomes doesn’t separate properly. The baby ends up with three copies, or an extra partial copy, of chromosome 21, instead of two. This extra chromosome causes problems as the brain and physical features develop. According to the There are three types of Down syndrome: Trisomy 21 Trisomy 21 means there’s an extra copy of chromosome 21 in every cell. This is the most common form of Down syndrome. Mosaicism Translocation In this type of Down syndrome, children have only an extra part of chromosome 21. There are 46 t...

The genetic basis of Down syndrome There are 23 pairs of chromosomes, for a total of 46. Half the chromosomes come from the egg (the mother) and half come from the sperm (the father). This XY chromosome pair includes the X chromosome from the egg and the Y chromosome from the sperm. In Down syndrome, there is an additional copy of chromosome 21, resulting in three copies instead of the normal two copies. 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. 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 ...

• Trisomy 21: This is the most common type of Down syndrome. It occurs when a person has three copies of chromosome 21 in each cell of their body. A person's typical number of • Mosaic Down syndrome: This type of Down syndrome occurs when there is a mixture of some cells in the body with trisomy 21 and some cells in the body without an extra chromosome 21. The symptoms can be similar to symptoms of full trisomy 21, but sometimes the effects are milder. It is seen in about 2% of people diagnosed with Down syndrome. • Translocation: This type occurs when a person has extra chromosome 21 genetic material attached to another chromosome. With this type of Down syndrome, the person may have 46 chromosomes in their cells. About 3% of people diagnosed with Down syndrome have this type. Down Syndrome and Genetics The genetic pattern of Down syndrome occurs due to the presence of an extra copy of chromosome 21 in the parents' egg cell or sperm cell. A child should normally receive only one copy of each chromosome from each parent—resulting in two copies of each chromosome in every one of the child’s cells. Down syndrome affects approximately 1 out of every 675 live births. What Are the Symptoms of Down Syndrome? Several characteristic physical changes and symptoms occur due to Down syndrome. These changes are often recognizable at birth, but some children might not have obvious features until early childhood. Living With Down Syndrome Living with Down syndrome is a challenge for the...