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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.
Keratoconus is also associated with Alport syndrome, Down syndrome and Marfan syndrome. [35] A number of studies suggest vigorous eye rubbing contributes to the progression of keratoconus, and people should be discouraged from the practice.
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 ...
Depending on the severity of accompanying health problems, an individual with Down syndrome can expect to live past age 60. Down Syndrome Treatment There is no way to prevent or cure Down syndrome.
Cri-du chat syndrome; Schmid–Fraccaro syndrome; Turner's syndrome; Ring-D chromosome; Monosomy-G syndrome; Trisomy 13 (Patau's syndrome, D-syndrome) Trisomy 18 (Edwards' syndrome, E-syndrome) Trisomy 21 (Down syndrome) Deletion of long arm of chromosome 18; Deletion of chromosome 18
Examples of chromosome abnormalities associated with cataracts include 1q21.1 deletion syndrome, cri-du-chat syndrome, Down syndrome, Patau's syndrome, trisomy 18 (Edward's syndrome), and Turner's syndrome, and in the case of neurofibromatosis type 2, juvenile cataract on one or both sides may be noted.
Cat eye syndrome; Caudal regression syndrome; Sotos syndrome Cerebral Gigantism; CHARGE syndrome; Chromosome 16 abnormalities; Chromosome 18 abnormalities; Chromosome 20 abnormalities; Chromosome 22 abnormalities; Cleft lip/palate; Cleidocranial dysostosis; Club foot; Congenital adrenal hyperplasia (CAH) Congenital central hypoventilation syndrome
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 ...