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Difference between revisions of "Down syndrome"
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# | '''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]] | |||