Many people with Down syndrome have the common facial features and no other major birth defects. However, some people with Down syndrome might have one or more major birth defects or other medical problems. Some of the more common health problems among children with Down syndrome are listed below. Down syndrome is a lifelong condition. Services early in life will often help babies and children with Down syndrome to improve their physical and intellectual abilities. Most of these services focus on helping children with Down syndrome develop to their full potential.
These services include speech, occupational, and physical therapy, and they are typically offered through early intervention programs in each state. Children with Down syndrome may also need extra help or attention in school, although many children are included in regular classes. The views of these organizations are their own and do not reflect the official position of CDC.
Skip directly to site content Skip directly to page options Skip directly to A-Z link. Birth Defects. Section Navigation. Facebook Twitter LinkedIn Syndicate. From Genetics Home Reference. Description Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone hypotonia in infancy. Frequency Down syndrome occurs in about 1 in newborns. Causes Most cases of Down syndrome result from trisomy 21 , which means each cell in the body has three copies of chromosome 21 instead of the usual two copies.
Learn more about the chromosome associated with Down syndrome chromosome Inheritance Most cases of Down syndrome are not inherited. Research Studies from ClinicalTrials. Chromosome 21 and down syndrome: from genomics to pathophysiology. Nat Rev Genet.
Neurobehavioral disorders in children, adolescents, and young adults with Down syndrome. Autistic-spectrum disorders in Down syndrome: further delineation and distinction from other behavioral abnormalities.
Behavioral phenotype of individuals with Down syndrome. Current dilemmas in Down syndrome clinical care: celiac disease, thyroid disorders, and atlanto-axial instability. Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United States. Am J Med Genet A. Estimation of the number of people with Down syndrome in the United States.
Genet Med. Epub Sep 8. Citation on PubMed Kumin L. Speech intelligibility and childhood verbal apraxia in children with Down syndrome.
Downs Syndr Res Pract. Alzheimer disease and Down syndrome: factors in pathogenesis. Neurobiol Aging. J Neurol. Down's syndrome. Down syndrome and associated congenital malformations. J Neural Transm Suppl. Half are from the father and half are from the mother. But sometimes an error occurs when the 46 chromosomes are being divided in half.
An egg or sperm cell may keep both copies of chromosome number 21, instead of just 1 copy. If this egg or sperm is fertilized, then the baby will have 3 copies of chromosome number This is called trisomy Sometimes the extra number 21 chromosome or part of it is attached to another chromosome in the egg or sperm.
This may cause translocation Down syndrome. This is the only form of Down syndrome that may be inherited from a parent. A rare form is called mosaic trisomy This is when an error in cell division happens after the egg is fertilized. People with this syndrome have both normal cells and some cells with an extra chromosome number This risk increases with each year of age, especially after age But younger women are more likely to have babies than older women.
So most babies with Down syndrome are born to women younger than Chromosome problems such as Down syndrome can often be diagnosed before birth. This is done by looking at cells in the amniotic fluid or from the placenta. This is a noninvasive prenatal screening.
These tests are very accurate. Fetal ultrasound during pregnancy can also show the possibility of Down syndrome. Problems from Down syndrome may not be seen with ultrasound. After birth, your baby may be diagnosed with a physical exam.
The healthcare provider may also take a blood sample. This is checked in a lab to find the extra chromosome. There is no cure for Down syndrome. But a child with Down syndrome may need treatment for problems such as:. Heart defects. About half of babies with Down syndrome have heart defects. Some defects are minor and can be treated with medicines. Others may need surgery. All babies with Down syndrome should be looked at by a pediatric cardiologist. Babies with Down syndrome should also have an echocardiogram.
This is a test that looks at the structure and function of the heart by using sound waves. This exam and test should be done in the first 2 months of life. This is so that any heart defects can be treated. Intestinal problems. Some babies with Down syndrome are born with intestinal structure problems that need surgery.
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