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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.
Down Syndrome Symptoms Down syndrome is usually diagnosed during pregnancy through genetic screening or at birth through diagnostic tests. There are some distinct physical features that typically ...
Brushfield spots are a characteristic feature of the chromosomal disorder Down syndrome or trisomy 21. They occur in 35–78% of newborn infants with Down syndrome. [ 2 ] Brushfield spots tend to be obscured by pigmentation of the anterior border layer of the iris in patients with darker irides.
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)
Down syndrome is a genetic condition in which people are born with an extra copy of chromosome 21. This extra copy affects the development of the body and brain, causing a range of physical and mental impairments for the individual. Fragile X syndrome, most frequent among males, is thought to cause autism and intellectual disability.
She says she notices some of the potential symptoms of her own mosaic Down syndrome in her daughter Evelyn, as well. Though Evelyn does not have trisomy 21, there is a possibility that, like her ...
Many times, de Morsier’s Syndrome or septo-optic dysplasia (SOD) is associated with ONH, however, it is possible to have ONH without any additional issues like SOD. SOD is a condition that can involve multiple problems in the midline structures of the brain, stemming from miswiring of the brain and central nervous system.
Lindsey Wiggins tells PEOPLE she had some inklings that her daughter might have Down syndrome, but "broke down" when a doctor suggested tests at 4 months old Mom in Tears After 4-Month-Old Is ...