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"ଟ୍ରିଚର କୋଲିନସ ସିଣ୍ଡ୍ରୋମ" ପୃଷ୍ଠାର ସଂସ୍କରଣ‌ଗୁଡ଼ିକ ମଧ୍ୟରେ ତଫାତ

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<!-- ସଂଜ୍ଞା ଓ ଲକ୍ଷଣ -->
'''ଟିଚର କୋଲିନସ ସିଣ୍ଡ୍ରୋମ''' ବା '''ଟିସିଏସ''' ('''Treacher Collins syndrome'''/ '''TCS''') ଏକ ଜେନେଟିକ ବେମାରୀ ([[:en:genetic disorder|genetic disorder]]) ଯେଉଁଥିରେ ରୋଗୀର ଆଖି, କାନ, ଗାଲ ହାଡ଼ ଓ ଥୋଡ଼ି ବଙ୍କା ହୋଇ କୁରୂପ ହୋଇଯାଏ ।<ref name=GHR2012/> ରୋଗ ସାମାନ୍ୟ ବା ସାଂଘାତିକ ହୋଇପାରେ ।<ref name=GHR2012/> ରୋଗ ଜଟିଳ ହେଲେ ଶ୍ୱାସକ୍ରିୟା ସମସ୍ୟା, କ୍ଲେଫ୍ଟ ପ୍ୟାଲେଟ ([[:en:cleft palate|cleft palate]]) ଓ ଦୃଷ୍ଟି ସମସ୍ୟା ଓ ଶ୍ରବଣ ହାନୀ ([[:en:hearing loss|hearing loss]]) ହୋଇପାରେ ।<ref name=GHR2012/> ରୋଗୀର ସାଧାରଣ ବୁଦ୍ଧି ଥାଏ । <ref name=GHR2012/>
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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>
 
<!-- କାରଣ ଓ ରୋଗ ନିର୍ଣ୍ଣୟ -->
ଟିସିଏସ ଏକ ଅଟୋସୋମାଲ ଡୋମିନାଣ୍ଟ ([[:en:autosomal dominant|autosomal dominant]]) ରୋଗ ।<ref name=GHR2012/> ବଂଶାନୁକ୍ରମରେ ପିତାମାତାଙ୍କଠାରୁ ନଆସି ଏହି ରୋଗ ନୂତନ ମ୍ୟୁଟେସନ ([[:en:mutation|mutation]]) ଯୋଗୁ ହୋଇଥାଏ ।<ref name=GHR2012/> ପ୍ରଭାବିତ ଜିନମାନଙ୍କର [[ଟିସିଓଏଫ୧]] ([[:en:TCOF1|TCOF1]]), [[ପିଓଏଲଆର୧ସି]] ([[:en:POLR1C|POLR1C]]) ଓ [[ପିଓଏଲଆର୧ଡି]] ([[:en:POLR1D|POLR1D]]) ନାମ ଦିଆଯାଇଛି ।<ref name=GHR2012/> ଲକ୍ଷଣ ଓ ଏକ୍ସ-ରେ ([[:en:radiographs|X-rays]]) ଦେଖି ରୋଗ ନିର୍ଣ୍ଣୟ କରାଯାଇପାରେ ଓ ଜେନେଟିକ ([[:en:genetic testing|genetic testing]]) କରି ରୋଗ ନିଶ୍ଚିତ କରାଯାଏ ।<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>
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Treacher Collins syndrome is not curable.<ref name=GARD2015>{{cite web|title=Treacher Collins syndrome|url=https://rarediseases.info.nih.gov/diseases/9124/treacher-collins-syndrome|website=rarediseases.info.nih.gov|accessdate=7 November 2017|language=en|date=2015}}</ref> Symptoms may be managed with reconstructive surgery, hearing aids, [[speech therapy]], and other assistive devices.<ref name=GARD2015/> Life expectancy is generally normal.<ref name=GARD2015/> TCS occurs in about one in 50,000 people.<ref name=GHR2012>{{cite web|title=Treacher Collins syndrome|url=https://ghr.nlm.nih.gov/condition/treacher-collins-syndrome|website=Genetics Home Reference|accessdate=7 November 2017|language=en|date=June 2012}}</ref> The syndrome is named after [[Edward Treacher Collins]], an [[England|English]] [[Surgery|surgeon]] and [[ophthalmology|ophthalmologist]], who described its essential traits in 1900.<ref name=Pra2014>{{cite book|last1=R|first1=Pramod John|last2=John|first2=Pramod|title=Textbook of Oral Medicine|date=2014|publisher=JP Medical Ltd|isbn=9789350908501|page=76|url=https://books.google.com/books?id=SLkiAwAAQBAJ&pg=PA76}}</ref><ref name=Gre2012>{{cite book|last1=Beighton|first1=Greta|title=The Man Behind the Syndrome|date=2012|publisher=Springer Science & Business Media|isbn=9781447114154|page=173|url=https://books.google.com/books?id=-TGgBQAAQBAJ&pg=PA173}}</ref>
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