Down Syndrome - NICHD - Eunice Kennedy Shriver National …
2023年11月22日 · 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 ...
What causes Down syndrome? | NICHD - NICHD - Eunice Kennedy …
2012年6月11日 · As the registry grows, families and researchers learn more about Down syndrome and identify similarities and differences in the symptoms and treatment of people with Down syndrome from around the world. The information collected helps guide future research and treatment. Learn more about DS-Connect ®: The Down Syndrome Registry.
Down Syndrome | NICHD - NICHD - Eunice Kennedy Shriver …
2023年11月30日 · 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 …
What conditions or disorders are commonly associated with Down …
2012年6月22日 · 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.
What are the symptoms of Down syndrome? - NICHD
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
About Klinefelter Syndrome (KS) | NICHD - NICHD - Eunice …
2024年1月9日 · The term “Klinefelter syndrome,” or KS, describes a set of features that can occur in a male who is born with an extra X chromosome in his cells. It is named after Dr. Henry Klinefelter, who identified the condition in the 1940s. 1
What are common symptoms of Klinefelter syndrome (KS)?
Males with poly-X Klinefelter syndrome have more than one extra X chromosome, so their symptoms might be more pronounced than in other males with KS. In childhood, they may have seizures, crossed eyes, constipation, and recurrent ear infections.
About Intellectual and Developmental Disabilities (IDDs)
2012年8月12日 · Cerebral palsy, 5 Down syndrome, Fragile X syndrome, and autism spectrum disorders (ASDs) are examples of IDDs related to problems with the nervous system. Sensory system These disorders affect the senses (sight, hearing, touch, taste, and smell) or how the brain processes or interprets information from the senses.
Klinefelter Syndrome (KS) - NICHD - Eunice Kennedy Shriver …
Klinefelter syndrome: Expanding the phenotype and identifying new research directions. Genetics in Medicine, 5(6), 460-468. Plotton, I., Brosse A., & Lejeune, H. (2010). Is it useful to modify the care of Klinefelter's syndrome to improve the chances of paternity? Annales d'endocrinologie (Paris), 71(6), 494-504. French.
How do health care providers diagnose Down syndrome?
2012年6月11日 · A diagnosis of Down syndrome after birth is often based initially on physical signs of the syndrome. But because individuals with Down syndrome may not have these symptoms, and because many of these symptoms are common in the general population, the health care provider will take a sample of the baby’s blood to confirm the diagnosis.
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