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Down syndrome. Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. [3] It is usually associated with developmental delays, mild to moderate intellectual disability, and characteristic physical features.
Down syndrome research. Research of Down syndrome–related genes is based on studying the genes located on chromosome 21. In general, this leads to an overexpression of the genes. [1] [2] Understanding the genes involved may help to target medical treatment to individuals with Down syndrome. It is estimated that chromosome 21 contains 200 to ...
No cure for Ehlers–Danlos syndrome is known, and treatment is supportive. Close monitoring of the cardiovascular system, physiotherapy, occupational therapy, and orthopedic instruments (e.g., wheelchairs, bracing, casting) may be helpful.
A guide to Down syndrome including symptoms and diagnosis of this genetic condition.
The life expectancy for people with Down syndrome has increased dramatically, but now, aging adults with the condition face a health system unprepared to care for them.
Margot Rhondeau of the National Down Syndrome Society, whose daughter, Hannah, 5, has the condition, said that for some families whose adult children are showing signs of dementia, safety data is ...
Rett syndrome(RTT) is a genetic disorderthat typically becomes apparent after 6–18 months of age and almost exclusively in females.[4] Symptoms include impairments in language and coordination, and repetitive movements.[4] Those affected often have slower growth, difficulty walking, and a smaller head size. [4][5]Complications of Rett syndrome can include seizures, scoliosis, and sleeping ...
John Langdon Haydon Down (18 November 1828 – 7 October 1896) was a British physician best known for his description of the genetic condition now known as Down syndrome, which he originally classified in 1862.