If you're new here, I'd love for you to sign up for our posts by email so we can stay connected. Thanks for visiting! Fairly certain that I knew Noah had Down syndrome based on this picture from the delivery room.
Down syndrome is a chromosome disorder caused by an extra chromosome 21 that results in intellectual disability and physical abnormalities. Children with Down syndrome have delayed physical and mental development, specific head and facial features, and are often short. See also Overview of Chromosomal Disorders.
Posted by Ellen Stumbo Down Syndrome It was when an English Physician named John Langdon Down first described the similarities of the condition that came to be known as Down syndrome Down, named after him. This happened before we had any insight into the genetic makeup of individuals, so it was not known that the presence of an extra 21st chromosome caused Down syndrome.
Down syndrome was first described by Dr John Langdon Down in Despite the availability of improved antenatal diagnosis, the incidence of Down syndrome remains at around 1 in 1, births. The risk of Down syndrome increases with maternal age, and this is the most important risk factor. In Victoria women are offered maternal serum screening between nine and 13 weeks combined with ultrasound for Nuchal translucency at weeks to establish their risk of Down syndrome with per cent sensitivity however, this means that per cent of women with a 'negative' test may still have a baby with Down syndrome.
To celebrate World Down Syndrome Day on March 21I reached out to parents around the world who have children with Down syndrome, as well as adults with Down syndrome, to share photos and descriptions of their kids or of themselves. The result is 21 photos and short bios that provide a beautiful testimony to the global reach of Down syndrome, as well as the tremendous diversity among people with Down syndrome. Each child and adult shines as an individual, and the thing that holds them together is the portrait of a good life.
Truthfully, anyone who has followed this blog for any period of time already knows that this myth is untrue. While it is true that people with Down syndrome have a number of common, recognizable facial features such as almond-shaped eyes, small ears, a somewhat flat facial profile, small mouths, and round facesthey look much more like their families than they do other people with Down syndrome unless, of course the families share similar characteristics! The common characteristics of Down syndrome correspond to the common characteristics of people of different ethnicities.
The disease impacts how a person looks, their ability to think, learn, and reason. As an infant and young adult, down syndrome is associated with intellectual disability, flattened facial features and a weak muscle tone. It is the single most common genetic chromosomal disorder, with approximately 3, to 5, babies born with the condition each year.
Huang is a fellow in Medical Research. The occurrence of major malformations in Down's syndrome has been reviewed recently by Warkany, et al. The present article is a study of the frequency of previously described stigmata in a sample of 56 Chinese children with Down's syndrome born in the area of Taipei, Taiwan.