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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.
Down syndrome is a set of cognitive and physical symptoms that result from having an extra chromosome 21 or an extra piece of that chromosome. It is the most common chromosomal cause of mild to moderate intellectual disabilities. People with Down syndrome are at risk for several other health conditions.
Diagnostic tests that can identify Down syndrome include: Chorionic villus sampling (CVS). In CVS, cells are taken from the placenta and used to analyze the fetal chromosomes. This test is typically performed in the first trimester, between 10 and 13 weeks of pregnancy.
The symptoms of Down syndrome vary from person to person, and people with Down syndrome may have different problems at different times of their lives. Physical Symptoms. Common physical signs of Down syndrome include 1, 2: Decreased or poor muscle tone; Short neck, with excess skin at the back of the neck; Flattened facial profile and nose
Almost all Down syndrome cases result from complete trisomy 21. 1, 2, 3; Mosaic trisomy 21. Not every cell in the body is exactly the same. In a small percentage (less than 5%) of Down syndrome cases, most of the cells in the body have the extra chromosome, but some of them don’t. This is called “mosaicism.”
Generally, children with Down syndrome reach key developmental milestones later than other children. 2 People with the syndrome are also more likely to be born with heart abnormalities, and they are at increased risk for developing hearing and vision problems, Alzheimer’s disease, and other conditions. 1 However, with appropriate support and ...
Algunos niños con síndrome de Down presentan anomalías gastrointestinales, que pueden comprender anomalías de los intestinos, el esófago, la tráquea y el ano. Pueden presentar mayor riesgo de tener problemas digestivos, como obstrucción gastrointestinal, acidez estomacal (reflujo gastroesofágico) o enfermedad celíaca.
A child with Down syndrome likely will receive care from a team of health professionals, including, but not limited to, physicians, special educators, speech therapists, occupational therapists, physical therapists, and social workers. All professionals who interact with children with Down syndrome should provide stimulation and encouragement.
Infants with Down syndrome have a 62-fold higher rate of pneumonia, especially in the first year after birth, than do infants without Down syndrome, for example. 2 Hypothyroidism. The thyroid is a gland that makes hormones the body uses to regulate things such as temperature and energy.
Down syndrome is a set of cognitive and physical symptoms that result from having an extra chromosome 21 or an extra piece of that chromosome. It is the most common chromosomal cause of mild to moderate intellectual disabilities. People with Down syndrome also have some distinct physical features, such as a flat-looking face, and they are at risk for a number of other health conditions.