Difference between revisions of "Down syndrome"

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#redirect [[trisomy 21]]
'''Down syndrome''', is a common genetic abnormality.  It may also be called '''Trisomy 21'''; however, technically this may not be completely correct in all cases.
 
==Characteristics==
Mnemonic ''CHILD HAS PROBLEM'':<ref>URL: [http://www.valuemd.com/genetics.php http://www.valuemd.com/genetics.php]. Accessed on: 29 May 2011.</ref>
#[[congenital heart disease|'''C'''ongenital heart disease]] / Cataracts.
#'''H'''ypothyroidism / Hypotonia.
#'''I'''ncurved 5th digit (clinodactyly)<ref>URL: [http://www.handresearch.com/diagnostics/simian-line-down-syndrome.htm http://www.handresearch.com/diagnostics/simian-line-down-syndrome.htm]. Accessed on: 29 May 2011.</ref> / Increased gap between 1st and 2nd toe.
#[[Leukemia|'''L'''eukemia]] risk x2 / Lung problem.
#'''D'''uodenal atresia / Delayed development.
#[[Hirschsprung disease|'''H'''irschsprung disease]] / Hearing loss.
#[[Alzheimer disease|'''A'''lzheimer disease]] / Alantoaxial instability.
#'''S'''hort neck / Squint.
#'''P'''almar crease / Protruding [[tongue]].
#'''R'''ound face / Rolling eye (nystagmus).
#'''O'''cciput flat / Oblique eye fissure.
#'''B'''rushfield spots / Brachycephaly.
#'''L'''ow nasal bridge / Language problems.
#'''E'''picanthic fold / Ears folded.
#'''M'''ental retardation / Myoclonus.
 
Notes:
*Brushfield spots = white/grey spots in the iris (the "colour part" of the eye).
**Image: [http://commons.wikimedia.org/wiki/File:Brushfield_eyes_magnified.jpg Brushfield spots (WC)].
 
==See also==
*[[Trisomy 13]] (Patau syndrome).
*[[Trisomy 18]] (Edwards syndrome).
*[[Chromosomal anomalies]].
*[[Stillbirth]].
 
==References==
{{Reflist|2}}
 
==External links==
*[http://www.ttuhsc.edu/fostersom/pediatrics/neonatology/documents/presentations/trisomy21.ppt Down syndrome (ttuhsc.edu)].
 
[[Category:Syndromes]]

Revision as of 03:35, 5 May 2012

Down syndrome, is a common genetic abnormality. It may also be called Trisomy 21; however, technically this may not be completely correct in all cases.

Characteristics

Mnemonic CHILD HAS PROBLEM:[1]

  1. Congenital heart disease / Cataracts.
  2. Hypothyroidism / Hypotonia.
  3. Incurved 5th digit (clinodactyly)[2] / Increased gap between 1st and 2nd toe.
  4. Leukemia risk x2 / Lung problem.
  5. Duodenal atresia / Delayed development.
  6. Hirschsprung disease / Hearing loss.
  7. Alzheimer disease / Alantoaxial instability.
  8. Short neck / Squint.
  9. Palmar crease / Protruding tongue.
  10. Round face / Rolling eye (nystagmus).
  11. Occiput flat / Oblique eye fissure.
  12. Brushfield spots / Brachycephaly.
  13. Low nasal bridge / Language problems.
  14. Epicanthic fold / Ears folded.
  15. Mental retardation / Myoclonus.

Notes:

  • Brushfield spots = white/grey spots in the iris (the "colour part" of the eye).

See also

References

  1. ↑ URL: http://www.valuemd.com/genetics.php. Accessed on: 29 May 2011.
  2. ↑ URL: http://www.handresearch.com/diagnostics/simian-line-down-syndrome.htm. Accessed on: 29 May 2011.

External links

Retrieved from "https://librepathology.org/w/index.php?title=Down_syndrome&oldid=16073"