"ଟ୍ରିଚର କୋଲିନସ ସିଣ୍ଡ୍ରୋମ" ପୃଷ୍ଠାର ସଂସ୍କରଣ‌ଗୁଡ଼ିକ ମଧ୍ୟରେ ତଫାତ

Content deleted Content added
ଟିଚର କୋଲିନସ ସିଣ୍ଡ୍ରୋମ ବିଷୟ ଲେଖାଗଲା
 
ଅଧିକ ତ‌ଥ୍ୟ ଦିଆଗଲା
୨୨ କ ଧାଡ଼ି:
| frequency = ୫୦,୦୦୦ ଲୋକରେ ଜଣେ । <ref name=GHR2012/>
| deaths =
}}{{^|
<!-- Definitionସଂଜ୍ଞା and symptomsଲକ୍ଷଣ -->
'''ଟିଚର କୋଲିନସ ସିଣ୍ଡ୍ରୋମ''' ବା '''ଟିସିଏସ''' ('''Treacher Collins syndrome'''/ ('''TCS''') isଏକ aଜେନେଟିକ ବେମାରୀ ([[:en:genetic disorder|genetic disorder]]) characterizedଯେଉଁଥିରେ byରୋଗୀର deformitiesଆଖି, ofକାନ, theଗାଲ ears,ହାଡ଼ eyes, cheekbones,ଥୋଡ଼ି ବଙ୍କା ହୋଇ କୁରୂପ andହୋଇଯାଏ chin.<ref name=GHR2012/> Theରୋଗ degreeସାମାନ୍ୟ toବା whichସାଂଘାତିକ aହୋଇପାରେ person is affected, however, may vary from mild to severe.<ref name=GHR2012/> Complicationsରୋଗ mayଜଟିଳ includeହେଲେ breathingଶ୍ୱାସକ୍ରିୟା problemsସମସ୍ୟା, problemsକ୍ଲେଫ୍ଟ seeing,ପ୍ୟାଲେଟ ([[:en:cleft palate|cleft palate]],) and ଦୃଷ୍ଟି ସମସ୍ୟା ଓ ଶ୍ରବଣ ହାନୀ ([[:en:hearing loss|hearing loss]].) ହୋଇପାରେ ।<ref name=GHR2012/> Those affectedରୋଗୀର generallyସାଧାରଣ haveବୁଦ୍ଧି aଥାଏ normal intelligence.<ref name=GHR2012/>
{{^|
 
<!-- Cause and diagnosis -->
TCS is usually [[autosomal dominant]].<ref name=GHR2012/> More than half the time it occurs as a result of a new [[mutation]] rather than being inherited from a person's parents.<ref name=GHR2012/> The involved gene may include ''[[TCOF1]]'', ''[[POLR1C]]'', or ''[[POLR1D]]''.<ref name=GHR2012/> Diagnosis is generally suspected based on symptoms and [[radiographs|X-rays]], and potentially confirmation by [[genetic testing]].<ref name=NORD2016>{{cite web|title=Treacher Collins Syndrome|url=https://rarediseases.org/rare-diseases/treacher-collins-syndrome/|website=NORD (National Organization for Rare Disorders)|accessdate=7 November 2017|date=2016}}</ref>