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Down syndrome or Down's syndrome, [12] 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.
MSA was first described in 1960 by Milton Shy and Glen Drager and was then known as Shy–Drager syndrome. [ 2 ] Many people affected by MSA experience dysfunction of the autonomic nervous system , which commonly manifests as orthostatic hypotension , impotence , loss of sweating , dry mouth and urinary retention and incontinence .
The median life expectancy for a baby born in the U.S. with Down syndrome jumped from about 4 years in 1950 to 58 years in the 2010s, according to a recent report from Skotko and other researchers ...
Developmental disability is a diverse group of chronic conditions, comprising mental or physical impairments that arise before adulthood. Developmental disabilities cause individuals living with them many difficulties in certain areas of life, especially in "language, mobility, learning, self-help, and independent living". [1]
As there is no known cure, life expectancy of people with progeria is 15 years, as of 2024. [59] At least 90 percent of patients die from complications of atherosclerosis, such as heart attack or stroke. [60] Mental development is not adversely affected; in fact, intelligence tends to be average to above average. [61]
For Ashley Zambelli, a surprise diagnosis allowed her to have an even more special bond with her children.. The Michigan-based mom, 23, recently found out she has Mosaic Down syndrome, a condition ...
The diagnosis of "ADHD, not otherwise specified" also no longer includes any mention of CDS symptoms. [25] Similarly, ICD-10, the medical diagnostic manual, has no diagnosis code for CDS. Although CDS is not recognized as a disorder at this point, researchers continue to debate its usefulness as a construct and its implications for further ...
Kleefstra syndrome affects males and females equally and approximately 75% of all documented cases are caused by Eu-HMTase1 disruptions while only 25% are caused by 9q34.3 deletions. [3] There are no statistics on the effect the disease has on life expectancy due to the lack of information available. [3]