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SIGNS - SIGNALS - SYNDROMES ... SEMIOLOGY

Prototype - Down syndrome (DS)

Emphasis on Dysmorpholoy

Part B

Related Topics

Note -  Clinical Eye Openers (CEO) offers a Dysmorphology (A) Tutorial (20 moducles inclusive of 29 Clinical Videos) 

(part B - see part A) 

Trio of DS major signs: flat nasal bridge and small tip; palbebral fissures upward sland; open mouth (cont.)
Same as in the left icon plus note the dysplastic hair and teeth. (cont.)
 DS in an adult female: note blepharitis and strabismus of the left eye (cont.)

 

In DS the ears tend to be small, round and the upper helix is often "crumbled", angulated or folded (cont.) 
Same as on the left - also note sparcity of the scalp hair in this and other infants sown in this gallery (hypotirchosis) (cont.)
Same as on the left plus note the "flat" face profile (imagine a line traced from the mid forehead to the chin) (cont.) 

 

Folded auricular helix. 

Same as in previous icon plus a yellowish skin hue (probably post-natal icterusk which in DS is more pronounced in part due to high levels of Hb)  

Adult with DS whose tongue is fisured (of unknown significance)

 

Many DS signs reflect acrodysplasia (reduced growth of distal body parts - digits, ears, nose, etc. - the opposite is present in achromegaly - perhaps DS tissues are not as responsive to growth factors) - note small 5th finger (left) - note a simian crease perhaps because the palm is "short" (center) - and gap between toes 1-2, a fairly characteristic sign of DS (no sign is pathognomonic)   

(continued)
 

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