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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.
Brushfield spots tend to be obscured by pigmentation of the anterior border layer of the iris in patients with darker irides. Hence, they are much more likely to be observed in children with lightly pigmented eyes. Brushfield spots are more commonly found in Down syndrome patients of European descent than similarly affected children of Asian ...
Down Syndrome Treatment There is no way to prevent or cure Down syndrome. But through education, support groups and the right team of health care providers, a child with Down syndrome can go on to ...
Ataxia telangiectasia (Louis–Bar syndrome) Encephalotrigeminal angiomatosis (Sturge–Weber syndrome) (encephalofacial cavernous hemangiomatosis) Neurofibromatosis (von Recklinghausen's disease) Tuberous sclerosis (Bourneville's syndrome) Wyburn–Mason syndrome (racemose hemangiomatosis)
Visual disturbances can occur due to the eye muscle imbalance after orbital mobilization. Ptosis and diplopia can also occur postoperatively, but this usually self-corrects. A quite difficult problem to correct postoperatively is canthal drift, which can be managed best by carefully preserving the canthal tendon attachments as much as possible.
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 250 genes. [3]
Geographic atrophy (GA), also known as atrophic age-related macular degeneration (AMD) or advanced dry AMD, is an advanced form of age-related macular degeneration that can result in the progressive and irreversible loss of retinal tissue (photoreceptors, retinal pigment epithelium, choriocapillaris) which can lead to a loss of central vision over time.
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 ...