What is Down syndrome?

Alternative Names Trisomy 21
Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and poor muscle tone (hypotonia) in infancy. The degree of intellectual disability varies, but it is usually mild to moderate. Down syndrome is a genetic condition in which a person has 47 chromosomes instead of the usual 46.People with Down syndrome may be born with a variety of birth defects. About half of all affected children have a heart defect. Digestive abnormalities, such as a blockage of the intestine, are less common. Many individuals with Down syndrome also have heart defects, leukemia, early-onset Alzheimer's disease, gastro-intestinal problems, and other health issues. Individuals with Down syndrome have an increased risk of developing several medical conditions. These include gastroesophageal reflux, which is a backflow of acidic stomach contents into the esophagus, and celiac disease, which is an intolerance of a wheat protein called gluten. About 15 percent of people with Down syndrome have an underactive thyroid gland (hypothyroidism). The thyroid gland is a butterfly-shaped organ in the lower neck that produces hormones. Individuals with Down syndrome also have an increased risk of hearing and vision problems. Additionally, about 1 percent of children with Down syndrome develop cancer of blood-forming cells (leukemia)

WHAT CAUSES OF DOWN SYNDROME Down syndrome is the most common single cause of human birth defects.
Down syndrome occurs because of an abnormality characterized by an extra copy of genetic material on all or part of the 21st chromosome. Every cell in the body contains genes that are grouped along chromosomes in the cell's nucleus or center. There are normally 46 chromosomes in each cell, 23 inherited from your mother and 23 from your father. When some or all of a person's cells have an extra full or partial copy of chromosome 21, the result is Down syndrome. The most common form of Down syndrome is known as Trisomy 21, a condition where individuals have 47 chromosomes in each cell instead of 46. This is caused by an error in cell division called nondisjunction, which leaves a sperm

but have some extra genetic material of the same chromosome attached with the chromosome which is the site of the translocation. Amongst these pairs of chromosomes. When the condition is caused by trisomy 21. usually chromosome 14 either prior to or during conception. There are three variations of Down syndrome. The presence of this extra part of chromosome 21 causes Down some syndrome characteristics. a form of Down syndrome called “Mosaic” Down syndrome may occur when an error in cell division occurs after fertilization (1 to 2 percent of cases). Those suffering from this disorder possess only a pair of chromosomes 21. . These persons have some cells with an extra chromosome 21 and others with the normal number. a segment of chromosome 21 gets attached to another chromosome. The physical and cognitive disabilities arising due to the condition are the consequence of excessive genetic material provided by the extra chromosome 21. that is the sperm or the egg ends up with an extra copy of chromosome 21. Random errors in cell division result in the partial or complete presence of three chromosomes 21 instead of a normal pair. with 88% originating from nondisjunction of the mother's egg cell. All cells in the human body comprise of 23 pairs of chromosome. one chromosome from each set is derived from one’s father and the other from the mother. Mosaic Down syndrome results when some cells in the body are normal while others have Trisomy 21. either of the reproductive cells. The third variation of the disease is known as Translocation Down syndrome. The abnormality usually occurs in egg cells. The remaining 5% of Down syndrome cases are due to conditions called mosaicism and translocation. The most common form of Down syndrome is referred to as Trisomy 21.or egg cell with an extra copy of chromosome 21 before or at conception. he or she has a greater risk of producing a child with an extra 21st chromosome. Can Down syndrome be inherited? Most cases of Down syndrome are not inherited. Owing to errors in cell division. Trisomy 21 accounts for 95% of Down syndrome cases. the chromosomal abnormality occurs as a random event during the formation of reproductive cells. In this form of the disorder. Down syndrome is associated with chromosome 21. Robertsonian translocation occurs when part of chromosome 21 breaks off during cell division and attaches to another chromosome (usually chromosome 14). Although a person with a translocation may appear physically normal. Rarely. the fetus may be born with Mosaic Down syndrome.When this abnormality occurs after fertilization.

Facial and Physical Features of down syndrome A baby with Down syndrome has some distinct facial features which can include almond shaped eyes (due to epicanthal folds). meaning an individual has three instead of two number 21 chromosomes. each made up of genes. the 21st chromosome pair does not split and a doubledose goes to the egg or sperm. About 1 percent to 2 percent of people with Down syndrome have this type. short stubby fingers and a fifth finger or pinky that curves inward (clinodactyly). somewhat flat nose. an extra part of the 21st chromosome gets stuck onto another chromosome. an egg or sperm cell may gain an extra copy of chromosome 21. They have a smaller head that is somewhat flattened in the back (brachycephaly) and straight hair that is fine and thin. Translocation — This occurs in about 3 percent to 4 percent of people with Down syndrome. Other physical features seen in Down syndrome include a single crease across the palms of their hands. We normally have 23 pairs of chromosomes. and small ears. If one of these atypical reproductive cells contributes to the genetic makeup of a child. The other cells have the usual pair of 21st chromosomes. the child will have an extra chromosome 21 in each of the body's cells. During the formation of the egg or the sperm a woman’s or a man’s pair of chromosomes normally split so that only one chromosome is in each egg or sperm. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example. In about half of these situations. An estimated 95 percent to 97 percent of the extra chromosome is of maternal origin. They also have round faces and somewhat flatter profiles.but it occasionally occurs in sperm cells. nor would they cause a baby with Down syndrome any problems. But if a doctor sees a number of these features together in one baby. the person with Down syndrome has an extra 21st chromosome in only some of the cells but not all of them. they begin to suspect . There are three types of Down syndrome: Trisomy 21 — An estimated 95 percent of people with Down syndrome have Trisomy 21. None of these facial or physical features are abnormal by themselves. In general. light-colored spots in their eyes (called Brushfield spots). they tend to have short stature with short limbs. a small. and can have a larger than normal space between the big and second toes. one parent carries the extra 21st chromosome material in a “balanced” or hidden form. In this type. In Trisomy 21. a small mouth with a protruding tongue. Mosaicism — In mosaicism.

Physical therapy is usually started early in babies with Down syndrome to improve their muscle tone. children with Down syndrome have a widely recognized appearance. In newborns. Hyptonia Almost all infants with Down syndrome have low muscle tone (hypotonia). Low muscle tone came make it more difficult to learn to roll over.” This is important because muscle tone can affect a child with Down syndrome’s ability to learn and grow. Common physical signs include: Decreased muscle tone at birth Excess skin at the nape of the neck Flattened nose Separated joints between the bones of the skull (sutures) Single crease in the palm of the hand Small ears Small mouth Upward slanting eyes . Hypotonia cannot be cured but it generally improves over time. although they also resemble their own families. sit-up. This means that their muscles are somewhat weak and they appear “floppy. symptoms: Down syndrome symptoms vary from person to person and can range from mild to severe. These facial and physical features are what cause people with Down syndrome resemble one another. The head may be smaller than normal and abnormally shaped. stand and even talk. However. the head may be round with a flat area on the back. Hypotonia can also lead to some of the orthopedic problems (bone problems) that some people with Down syndrome can have. hypotonia can also cause feeding problems.that the baby has Down syndrome. Many children with Down syndrome are delayed in reaching their motor milestones because of their hypotonia. For example. The inner corner of the eyes may be rounded instead of pointed.

Children may also have delayed mental and social development. such as cataracts (most children with Down syndrome need glasses) Early and massive vomiting.Wide. such as esophageal atresia and duodenal atresia Hearing problems. Common problems may include: Impulsive behavior Poor judgment Short attention span Slow learning As children with Down syndrome grow and become aware of their limitations. probably caused by regular ear infections Hip problems and risk of dislocation Long-term (chronic) constipation problems Sleep apnea (because the mouth. Most children with Down syndrome never reach their average adult height. they may also feel frustration and anger. short hands with short fingers White spots on the colored part of the eye (Brushfield spots) Physical development is often slower than normal. including: Birth defects involving the heart. and airway are narrowed in children with Down syndrome) Teeth that appear later than normal and in a location that may cause problems with chewing Underactive thyroid (hypothyroidism) . Many different medical conditions are seen in people with Down syndrome. throat. such as an atrial septal defect or ventricular septal defect Dementia may be seen Eye problems. which may be a sign of a gastrointestinal blockage.

such as feeding and dressing. medications. the goals of Down syndrome treatment are to control symptoms and manage any resulting medical conditions. These may include the following: Physiotherapist A physiotherapist is a trained healthcare professional who uses physical methods. An occupational therapist can help a person with Down’s syndrome by breaking down tasks into smaller steps. due to poor muscle tone (hypotonia) many people with Down’s syndrome have problems with tasks that require a certain degree of physical co-ordination. then helping them to learn how to . Occupational therapist Occupational therapists give people practical support so that they can live more independently. sit up or walk. Babies with Down’s syndrome may have poor muscle tone. For example. A child with Down’s syndrome will often have physiotherapy from a young age because it can help them to improve their range of movement. This includes regular checkups and screenings. to promote health and wellbeing. so a speech therapist can help them to learn to communicate more effectively. Counseling and support groups are also aspects of treatment for those who need help in coping with the emotional and practical aspects of Down syndrome. Management and Treatment for Down syndrome can include: Regular checkups and screening Medications Surgery Counseling and support Care team There are a number of different healthcare professionals who will monitor and treat someone with Down’s syndrome. so a physiotherapist can help them to learn to roll over.Treatment for Down Syndrome Because there is no cure. such as massage and manipulation. and surgery. Speech therapist Children with Down’s syndrome may have problems learning to speak.

having an underactive metabolism. An orthoptist often works with an ophthalmologist to treat eye conditions that involve problems with eye movement and focusing ability. See Down’s syndrome . An audiologist (an expert in diagnosing and treating hearing conditions) will monitor your hearing in order to detect problems as soon as possible. See the Health A-Z topic about Occupational therapy for more information about this type of treatment. such as finding accommodation or applying for financial benefits. and leads to a less physically active lifestyle than those without the condition. but a combination of factors may be responsible. This will ensure that they are eating a healthy. which makes it more difficult to burn off calories. Rates of obesity are particularly high among adults with Down’s syndrome. such as squints (strabismus) or ‘lazy eye’ (amblyopia). step-by-step. Social worker People with Down’s syndrome may need help in overcoming social problems. People with Down’s syndrome have an increased risk of developing eye problems. Ophthalmologist and orthoptists An ophthalmologist is a health professional who specialises in treating eye conditions. The reasons for this are uncertain. GP Your GP will help you to deal with any general health problems and some of the day-to-day management of Down’s syndrome. An estimated half of all adults with Down’s syndrome are obese. enabling them to live more independently. Dietitian People with Down’s syndrome may find it difficult to control their weight. such as eye infections and cataracts. for example. A social worker will help them to do this. Audiologist People with Down’s syndrome sometimes have hearing problems – see Down’s syndrome . A dietitian (an expert in food and nutrition) can help someone with Down’s syndrome to devise a dietary plan that is tailored to their needs. nutritious and well-balanced diet.complications for more information about the .complications.complete the task.

See: Chromosome studies .treatment of eye conditions in people with Down’s syndrome. Many children with Down’s syndrome are able to go to mainstream schools. However. there are a number of schools and other facilities that offer schooling specifically tailored to those with special needs. Exams and Tests: A doctor can often make an initial diagnosis of Down syndrome at birth based on how the baby looks. Cardiologist A cardiologist is someone who specialises in diagnosing and treating heart conditions. As those with Down’s syndrome are more likely to develop health problems. or you feel that they would benefit more from specialist schooling. They will often help to co-ordinate all of the different types of treatment that your child needs. People with Down’s syndrome have an increased risk of developing heart problems. so their heart must be checked regularly. Living independently With help and support. Someone with Down’s syndrome will usually have their sight. such as cataracts and hearing problems. Monitoring Children and adults with Down’s syndrome need regular check-ups so that their health can be closely monitored. it is very important to carefully monitor their health so that any problems can be detected and treated as soon as possible. if your child is severely affected by Down’s syndrome. many people with Down’s syndrome can live an active and independent life. Paediatrician A paediatrician is a doctor who specialises in treating children. Children with Down’s syndrome will also have their growth monitored. The doctor may hear a heart murmur when listening to the baby's chest with a stethoscope. A blood test can be done to check for the extra chromosome and confirm the diagnosis. hearing and thyroid function (a test to determine whether the thyroid gland is releasing the right amount of hormones into the body) regularly checked.

It is also standard for pregnant women older than 30 or 35 to receive genetic screens because the risk of having a child with Down syndrome is increased as women age. unlike diagnostic tests. These families often receive screening and diagnostic tests for the condition.Other tests that may be done include: Echocardiogram to check for heart defects (usually done soon after birth) ECG X-rays of the chest and gastrointestinal tract Persons with Down syndrome need to be closely screened for certain medical conditions. or preterm labor. Screening tests are used to estimate the risk that a fetus has Down syndrome. fetal injury. However. Screening tests include: Nuchal translucency testing (at 11 to 14 weeks) . which are 99% accurate in detecting Down syndrome and other problems.12 months. depending on age Dental exams every 6 months X-rays of the upper or cervical spine between ages 3 . They should have: Eye exam every year during infancy Hearing tests every 6 .5 years Pap smears and pelvic exams beginning during puberty or by age 21 Thyroid testing every 12 months How is Down syndrome screened and diagnosed? Some families have prenatal exams that indicate various possible problems. screening tests cannot give definite answers as to whether the baby has Down syndrome. and diagnostic tests can tell whether the fetus actually has the condition. Screening tests are a cost-effective and less invasive way to determine if more invasive diagnostic tests are needed. are usually performed inside the uterus and carry an extra risk of miscarriage. and others already know that they have an increased chance of having a child with Down syndrome. Diagnostic tests.an ultrasound that measures clear space in folds of tissue behind the neck of a developing baby Triple screen or quadruple screen (at 15 to 18 weeks) .measures the quantities of normal substances in the mother's blood .

Integrated screen .analysis of a small sample of blood from the umbilical cord obtained from a needle inserted into the abdomen Down syndrome can also be diagnosed after a baby is born by inspecting the infant's physical characteristics as well as blood and tissue samples that are stained to show chromosomes grouped by size.analysis of a tiny sample of placenta obtained from a needle inserted into the cervix or the abdomen Amniocentesis (at 15 to 20 weeks) .Detailed ultrasound combined with blood test results Diagnostic tests include: Chorionic villus sampling (at 8 to 12 weeks) . number. IMAGE OF DOWN SYNDROME .combines first trimester screening tests (with or without nuchal translucency) and blood tests with second trimester quadruple screen Genetic ultrasound (at 18 to 20 weeks) .analysis of a small amount of amniotic fluid obtained from a needle inserted into the abdomen Percutaneous umbilical blood sampling (after 20 weeks) . and shape.

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