Get the facts on Down syndrome, a genetic disorder caused by an additional set of chromosomes in a developing fetus. Down syndrome signs and symptoms include distinctive facial features, growth retardation, and decreased mental function and IQ. Blood tests and ultrasound may be used to screen for Down syndrome but chromosome analysis of the fetus is needed to diagnose the condition. People with Down syndrome age more quickly and may develop Alzheimer's disease as young as age 40. Sometimes people are diagnosed with mosaic Down syndrome, in which case they have more than one type of chromosomal makeup. Read more: Down Syndrome Article
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Related Disease Conditions
Genetic Diseases (Disorder Definition, Types, and Examples)
The definition of a genetic disease is a disorder or condition caused by abnormalities in a person's genome. Some types of genetic inheritance include single inheritance, including cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis. Other types of genetic diseases include multifactorial inheritance. Still other types of genetic diseases include chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Diabetes (Type 1 and Type 2)
Diabetes is a chronic condition characterized by high levels of sugar (glucose) in the blood. The two types of diabetes are referred to as type 1 (insulin dependent) and type 2 (non-insulin dependent). Symptoms of diabetes include increased urine output, thirst, hunger, and fatigue. Treatment of diabetes depends on the type.
There are a variety of diseases and conditions that can cause tongue problems, discoloration, and soreness. Though most tongue problems are not serious. Conditions such as leukoplakia, oral thrush, and oral lichen planus may cause a white tongue while Kawasaki syndrome, scarlet fever, and geographic tongue may cause the tongue to appear red. A black hairy tongue may be caused by overgrown papillae on the tongue. Canker sores, smoking, and trauma may cause soreness of the tongue.
Dislocated Ankle (Ankle Dislocation)
Symptoms and signs of a dislocated ankle include pain, swelling, bruising, ankle deformity, and possible numbness and tingling in the foot. Treatment of an ankle dislocation involves putting the ankle bones back in their normal positions, possible using gentle traction. The blood and nerve supply to the foot will be evaluated and the ankle will be checked for any related fractures. The ankle will be fitted with a splint or a cast.
Obesity and Overweight
Obesity is the state of being well above one's normal weight. A person has traditionally been considered to be obese if they are more than 20% over their ideal weight. That ideal weight must take into account the person's height, age, sex, and build.
What Is Scoliosis?
Scoliosis causes an abnormal curvature of the spine. When the cause of scoliosis is unknown the disorder is described based on the age when the scoliosis develops (infantile, juvenile, or adolescent idiopathic scoliosis). In functional scoliosis, curvature develops due to a problem somewhere else in the body. With neuromuscular scoliosis, there is a problem when the bones of the spine are formed. Treatment typically involves observation, bracing, and surgery and is dependent upon the severity of the curvature.
Hypothyroidism is any state in which thyroid hormone production is below normal. Normally, the rate of thyroid hormone production is controlled by the brain by the pituitary gland. Hypothyroidism is a very common condition and the symptoms of hypothyroidism are often subtle, but may include, constipation, memory loss, hair loss, and depression. There are a variety of causes of hypothyroidism, and treatment depends on the cause.
Glaucoma is a common eye condition in which the fluid pressure inside the eye rises because of slowed fluid drainage from the eye. If untreated, glaucoma may damage the optic nerve and other parts of the eye, causing the loss of vision or even blindness.
The joint hypermobility syndrome is a condition in which the joints easily move beyond the normal range expected for a particular joint. The condition tends to run in families. Symptoms of hypermobility syndrome include joint pain. People with hypermobility syndrome are more susceptible to injury, including dislocations and sprains. Anti-inflammatory drugs can help with joint pain. Exercise can strengthen muscles, providing stability.
Leukemia is a type of cancer of the blood cells in which the growth and development of the blood cells are abnormal. Strictly speaking, leukemia should refer only to cancer of the white blood cells (the leukocytes) but in practice it can apply to malignancy of any cellular element in the blood or bone marrow, as in red cell leukemia (erythroleukemia).
Blindness is the state of being sightless. Causes of blindness include macular degeneration, stroke, cataract, glaucoma, infection and trauma. Symptoms and signs may include eye pain, eye discharge, or the cornea or pupil turning white. Treatment of blindness depends upon the cause of the blindness.
Dementia is defined as a significant loss of intellectual abilities such as memory capacity, severe enough to interfere with social or occupational functioning. There are several different types of dementia, including cortical, subcortical, progressive, primary, and secondary dementias. Other conditions and medication reactions can also cause dementia. Dementia is diagnosed based on a certain set of criteria. Treatment for dementia is generally focused on the symptoms of the disease.
Pregnancy Planning (Tips)
Pregnancy planning is an important step in preparation for starting or expanding a family. Planning for a pregnancy includes taking prenatal vitamins, eating healthy for you and your baby, disease prevention (for both parents and baby) to prevent birth defects and infections, avoiding certain medications that may be harmful to your baby, how much weight gain is healthy exercise safety and pregnancy, travel during pregnancy.
Eustachian Tube Dysfunction
The Eustachian tube is a membrane lined tube that connects the middle ear space to the back of the nose. Symptoms of Eustachian tube dysfunction or blockage include popping and/or clicking in the ear, and ear fullness and/or pain. Causes of Eustachian tube dysfunction or blockage include allergies, sinus infections, ear infections, and the common cold. Treatment includes home remedies to relieve pain and several maneuvers (swallowing, chewing gum, yawning etc.), which can be done to improve Eustachian tube function. In severe cases surgery may be necessary.
Sleep apnea is defined as a reduction or cessation of breathing during sleep. The three types of sleep apnea are central apnea, obstructive apnea (OSA), and a mixture of central and obstructive apnea. Central sleep apnea is caused by a failure of the brain to activate the muscles of breathing during sleep. OSA is caused by the collapse of the airway during sleep. OSA is diagnosed and evaluated through patient history, physical examination and polysomnography. There are many complications related to obstructive sleep apnea. Treatments are surgical and non-surgical.
Mental Illness in Children
About 5 million children and adolescents in the U.S. suffer from a serious mental illness such as eating disorders, anxiety disorders, disruptive behavior disorders, pervasive development disorders, elimination disorders, learning disorders, schizophrenia, tic disorders, and mood disorders. Symptoms of mental illness include frequent outbursts of anger, hyperactivity, fear of gaining weight, excessive worrying, frequent temper tantrums, and hearing voices that aren't there. Treatment may involve medication, psychotherapy, and creative therapies.
Microcephaly is a genetic condition where the circumference of the head is smaller than normal due to underdeveloped brain. Microcephaly is caused by genetic abnormalities, abuse of alcohol or drugs, infection (for example, Zika virus, German measles, or chickenpox), exposure to toxins, or PKU while the mother is pregnant. Symptoms of microcephaly depend upon the severity of the accompanying syndrome. There is no treatment for microcephaly.
A cataract is an eye disease that causes the eye's lens to become cloudy and opaque with decreased vision. Causes of cataracts include diabetes, hypothyroidism, certain genetic illnesses, hyperparathyroidism, atopic dermatitis, and certain medications. Cataract symptoms and signs include a decrease in vision and a whitish color to the affected eye. Treatment for cataracts may involve cataract surgery.
How Can You Tell if Your Child Has Down Syndrome?
Down syndrome affects many families every year. How Down syndrome may display in each child can depend on individual factors, including what type of Down syndrome the child has. Learn the signs of Down syndrome, what causes it, and available treatments if you believe your child may have it.
Fragile X Syndrome
Fragile X syndrome is the most common inherited form of mental retardation. It's caused by a mutation on the X chromosome. People with Fragile X syndrome suffer from physical, social, emotional, speech, language, sensory, intelligence, and learning impairments. There is no definitive treatment for Fragile X, though there are ways to minimize the symptoms.
Moyamoya disease is an inherited (genetic) progressive cerebrovascular disorder caused by arteries that are blocked at the base of the brain. Moyamoya means "puff of smoke" in Japanese. Signs and symptoms of Moyamoya disease in adults include fainting, and vision problems, and in children included may include headaches and speech problems. There are 6 stages of Moyamoya disease. Surgery is the preferred treatment for the disease, and there is no cure for Moyamoya disease, and it can be fatal.
Alzheimer's disease is a common cause of dementia. Symptoms and warning signs of Alzheimer's disease include memory loss, difficulty performing familiar tasks, disorientation to time and place, misplacing things, and more. The biggest risk factor for Alzheimer's disease is increased age. Treatment for Alzheimer's is often targeted toward decreasing the symptoms and progression of the disease.
Turner syndrome is an inherited chromosomal condition affecting women. Women with Turner syndrome do not have ovarian function, and features of the syndrome include webbed neck, lymphedema of the hands and feet, heart defects, kidney problems, and skeletal abnormalities. The X chromosome is related to Turner syndrome. Treatment focuses on the symptoms of the syndrome.
Autism Spectrum Disorder (in Children and Adults)
Autism in children and adults is a developmental disorder, characterized by impaired development in communication, social interaction, and behavior. Autism is classified as a pervasive developmental disorder (PDD), which is part of a broad spectrum of developmental disorders affecting young children and adults. There are numerous theories and studies about the cause of autism. The treatment model for autism is an educational program that is suitable to an individual's developmental level of performance. There is no "cure" for autism.
Children's health is focused on the well-being of children from conception through adolescence. There are many aspects of children's health, including growth and development, illnesses, injuries, behavior, mental illness, family health, and community health.
Klinefelter syndrome, also referred to as XXY condition, is a genetic disease. Klinefelter syndrome affects mostly males. Symptoms include decreased testosterone levels, development of breasts, wider hips, and infertility. Some men with Klinefelter syndrome have no symptoms. Treatment includes educational, therapeutic, and medical therapy.
Cystic hygroma is a birth defect that may be apparent while a fetus is still in the womb. It is a malformation of the lymphatic system. Symptoms and signs of cystic hygroma may include breathing difficulties, feeding problems, sleep apnea, and failure to thrive. Treatment usually consists of surgery. The prognosis of cystic hygroma is variable, ranging from good to poor, depending on a variety of factors.
Spina Bifida (Anencephaly, Neural Tube Defects) in Babies and Adults
Spina bifida is the most common neural tube defect in the United States. There are four types of spina bifida; 1) occulta, 2) closed neural tube defects, 3) meningocele, and 4) myelomeningocele. The cause of spina bifida is not known. Theories include genetic, nutritional, and environmental factors. Lack of folic acid during pregnancy is highly suspected. Symptoms of spina bifida vary from individual to individual. Treatment depends on the type of spanina bifida the person suffers.
Hirschsprung Disease (Symptoms, Causes, and Treatments)
Hirschsprung disease is an inherited condition that is present at birth (congenital) in which the nerves of parts of the large intestine are missing. The primary symptom is constipation. The diagnosis of Hirschsprung disease is made by examining the newborn or child, genetic testing, and other test results. Treatment for Hirschsprung disease is surgery, either pull-through procedure for newborns or ostomy for children. Most newborns and toddlers feel much better after surgery.Other information about Hirschsprung disease.Hirschsprung disease is a genetic, or inherited, condition. Other symptoms in newborns and toddlers are: Diarrhea, often with blood. Green or brown vomit Abdominal distension Nausea and vomiting Weight loss Sepsis Failure to thrive in infancy Intestinal obstruction Slow growth Intellectual disability The only treatment for Hirschsprung disease is surgery. Doctors and surgeons treat newborns with a pull-through procedure in which the surgeon removes the part of the large intestine that is missing nerves and connects it to the healthy part of the anus. Toddlers and children require ostomy surgery, in which part of the intestine is brought through the abdominal wall so that feces can leave the body without passing through the anus. The opening in the abdominal wall is called a stoma, and a removable external pouch is attached to it. Complications can occur with either type of surgery, and may include: Narrowing of the anus Enterocolitis Delayed toilet training Stool leaking from the anus Hirschsprung disease can be a medical emergency that requires surgery. If your newborn or child has these symptoms listed, contact your OB/GYN or Pediatrician urgently. REFERENCES: NIH; National Institute of Diabetes and Digestive Diseases. "Hirschsprung Disease." Updated: Sep 2015.<https://www.niddk.nih.gov/health-information/digestive-diseases/hirschsprung-disease> Genetic Home Reference. "Hirschsprung disease." Updated: Jun 27, 2017.<https://ghr.nlm.nih.gov/condition/hirschsprung-disease#synonyms> NCBI. "Hirschsprung Disease Overview." Updated: Oct 1, 2015.<https://www.ncbi.nlm.nih.gov/books/NBK1439/> NIH; National Center for Advancing Translational Sciences; GARD. "Hirschsprung's disease." Updated: Jun 01, 2017.<https://rarediseases.info.nih.gov/diseases/6660/hirschsprungs-disease>
Congenital Heart Defects
Congenital heart defects are heart problems that are present at birth. Genetics may play a role in some heart defects. Symptoms can range from nonexistent to severe and life-threatening. Fatigue, rapid breathing, and decreased blood circulation are a few possible symptoms of congenital heart defects. Many cases do not require any treatment. Procedures using catheters and surgery may be used to repair severe heart defects.
Strabismus (Crossed Eyes)
Strabismus, or crossed eyes, is a condition in which the eyes do not align in the usual way. The condition may be congenital or the result of a problem with the control of the muscles of the eyes. Strabismus may cause double vision, headaches, eyestrain, and problems with depth perception and peripheral vision. Treatment may involve physical therapy, vision therapy, surgery, or wearing glasses.
Fast-food consumption and lack of exercise are just a couple of causes of childhood obesity. Health effects of childhood obesity include type 2 diabetes, heart attack, stroke, high cholesterol, asthma, sleep apnea, gallstones, fatty liver disease, GERD, depression, and eating disorders.
Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
Noonan syndrome is a genetic disorder that causes birth defects (congenital malformations) such as short stature, caved-in chestbone, webbing of the neck as well as heart and blood vessel defects. Named after Dr. Jacqueline A. Noonan it is inherited as an autosomal dominant disorder. The Noonan gene (NS1) is on a nonsex (autosomal) chromosome (number 12) and is transmitted from a parent with a 50% probability to boy or girl. Treatment for Noonan syndrome is directed toward the problems that may occur in a given affected individual. The heart defects may require surgical treatment. The expected outcome (prognosis) depends on the extent and severity of the features that are present.
What Causes Down Syndrome?
Down syndrome is a genetic disorder caused by abnormal cell division resulting in chromosomal abnormality. Abnormalities include an extra full or partial copy of chromosome 21. This genetic abnormality leads to developmental and physical changes that are characteristic of Down syndrome.
Childhood Acute Lymphoblastic Leukemia (ALL)
Childhood acute lymphoblastic leukemia is the most common type of cancer in children. Symptoms and signs include fever, easy bruising, bone or joint pain, weakness, loss of appetite, and painless lumps in the neck, underarm, stomach, or groin. Treatment depends upon staging and may include chemotherapy, radiation, or stem cell transplant.
What Is Down Syndrome?
Down syndrome is a type of genetic disorder in which a person has an extra chromosome (rod-like structures that contain genes) inside the cells. In the case of a baby with Down syndrome, there is an extra copy of one of these chromosomes, that is, chromosome 21.
Treatment & Diagnosis
Prevention & Wellness
- Genes Could Raise COVID Risks for People With Down Syndrome
- People With Down Syndrome Face Higher Risk of Severe COVID-19
- People With Intellectual Disabilities Are Being Hit Hard by COVID-19
- Study: Aging With Down Syndrome Means Huge Alzheimer's Risk
- Down Syndrome Carries Raised Risk of Dementia by 55
- How Do Birth Defects Affect Childhood Cancer Risk?
- Weight-Loss Surgery Just as Successful for Teens With Down Syndrome
- Experts Outline Down Syndrome's Developmental Milestones
- For Down Syndrome Adults, Death and Dementia Often Come Together
- Naps Don't Help Down Syndrome Kids Learn: Study
- Americans Say Editing Baby's Genes OK, Up to a Point: Poll
- Scientists Spot Gene Linking Down Syndrome, Early Alzheimer's
- Disabled Kids at Higher Risk of Abuse, Study Finds
- Down Syndrome May Not Be Big Financial Burden on Families
- Dad's Role in Baby's Health Larger Than Thought?
- Kids of Older Moms May Have a Leg Up on Their Peers
- Rural Kids Face Special Challenges When Seriously Ill: Study
- Most Families Cherish a Child With Down Syndrome, Survey Finds
- Gene Abnormality May Be Key to Down Syndrome, Scientists Say
- Genetic Abnormality May Explain Health Complications of Down Syndrome
- Fetal Tissue Research: FAQ
- Fetal DNA Test May Also Help Spot Mom's Cancer, Study Finds
- Brain Scans Give Clues to Link Between Alzheimer's, Down Syndrome
- Newer Test for Down Syndrome Called 'Major Advance'
- A Better Test for Down Syndrome?
- New Registry Aims to Serve People With Down Syndrome
- Plastics Chemical BPA May Harm Human Fertility: Study
- Birth Defect Risk Doubles in Children Born to Cousins: Study
- U.S. Children's Hospitals Treating More Complex, Expensive Conditions
- Prenatal Test Presents Dilemmas to Expectant Mothers
- Animal Study Ties Common Chemical to Reproductive Problems
- Father's Age Linked to Autism
- Blood Test May Spot Genetic Disease in Fetuses
- New Earlier, Noninvasive Paternity Test Developed
- Blood Test Detects Down Syndrome During Pregnancy
- Birth Defects Seem Rare in Kids of Childhood Cancer Survivors
- Progress Toward Blood Test for Down Syndrome
- How Parents Come to Accept Down Syndrome Diagnosis
- Kids With Down Syndrome Might Get Help Learning
- A Protein Links Alzheimer's, Down Syndrome
- New Down Syndrome Theory Emerges
- U.S. Records Increase in Kids With Down Syndrome
- Faulty Brain Network May Cause Fragile X, Down Syndromes
- Call for More Down Syndrome Screening