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  2. Brushfield spots - Wikipedia

    en.wikipedia.org/wiki/Brushfield_spots

    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 ...

  3. Prader–Willi syndrome - Wikipedia

    en.wikipedia.org/wiki/Prader–Willi_syndrome

    Prader–Willi syndrome (PWS) is a rare genetic disorder caused by a loss of function of specific genes on chromosome 15. [2] In newborns , symptoms include weak muscles , poor feeding, and slow development. [ 2 ]

  4. Down syndrome - Wikipedia

    en.wikipedia.org/wiki/Down_syndrome

    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.

  5. List of people with Down syndrome - Wikipedia

    en.wikipedia.org/wiki/List_of_people_with_Down...

    The average IQ of a young adult with Down syndrome is 50, equivalent to the mental age of an 8- or 9-year-old child, but this number varies widely. [3] At the same time, they enjoy a rich social and emotional awareness. [4] Down syndrome is the most common chromosome abnormality in humans, [3] occurring in about one per 1000 babies born each ...

  6. Cyclopia - Wikipedia

    en.wikipedia.org/wiki/Cyclopia

    Cyclopia (named after the Greek mythology characters cyclopes), also known as alobar holoprosencephaly, is the most extreme form of holoprosencephaly and is a congenital disorder (birth defect) characterized by the failure of the embryonic prosencephalon to properly divide the orbits of the eye into two cavities.

  7. Hirschsprung's disease - Wikipedia

    en.wikipedia.org/wiki/Hirschsprung's_disease

    RET can mutate in many ways and is associated with Down syndrome. Since Down syndrome is comorbid in 2% of Hirschsprung's cases, a likelihood exists that RET is involved heavily in both Hirschsprung's disease and Down syndrome. RET is also associated with medullary thyroid cancer and neuroblastoma, which is a type of cancer common in children ...

  8. List of congenital disorders - Wikipedia

    en.wikipedia.org/wiki/List_of_congenital_disorders

    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

  9. Low-set ears - Wikipedia

    en.wikipedia.org/wiki/Low-set_ears

    Clinically, if the point at which the helix (curved upper part) of the outer ear meets the cranium is at or below the line connecting the inner canthi of eyes (the bicanthal plane), the ears are considered low set. [2] [1] Low-set ears can be associated with conditions such as: Down syndrome [3] Turner syndrome; Noonan syndrome [4] Patau ...