Yintoni i-treacher collins syndrome, oonobangela, iimpawu kunye nonyango

Umxholo

• Unobangela wesifo sikaTreacher Collins
• Iimpawu ezinokwenzeka
• Unyango lwenziwa njani

I-Treacher Collins syndrome, ekwabizwa ngokuba yi-mandibulofacial dysostosis, sisifo esinqabileyo semfuza esibonakaliswa kukungalungelelani entloko nasebusweni, sishiya umntu enamehlo ajongileyo kunye nomhlathi omiselweyo ngenxa yokhakhayi olungaphelelanga, olunokwenzeka kumadoda njengabasetyhini.

Ngenxa yokwakheka kwamathambo okungalunganga, abantu abanale syndrome banokuba nobunzima bokuva, ukuphefumla kunye nokutya, nangona kunjalo, iTreacher Collins syndrome ayonyusi umngcipheko wokufa kwaye ayichaphazeli inkqubo ye-nervous system, ivumela ukukhula ukuba kwenzeke ngokwesiqhelo.

Unobangela wesifo sikaTreacher Collins

Esi sifo sibangelwa ikakhulu kukutshintsha kwemfuza kwi-TCOF1, POLR1C okanye kwi-POLR1D yemfuza ebekwe kwi-chromosome 5, efaka iprotein enemisebenzi ebalulekileyo ekugcineni iiseli ezivela kwi-neural crest, eziziiseli eziza kwenza amathambo endlebe, ubuso kunye neendlebe kwiiveki zokuqala zokukhula kombungu.

Isifo sikaTreacher Collins sisifo esinegunya lokulawula isifo, ngoko ke amathuba okuba usifumane esi sifo ngama-50% ukuba omnye wabazali unale ngxaki.

Kubalulekile ukuba ugqirha enze uxilongo olwahlukileyo kwezinye izifo ezinje nge-Goldenhar's syndrome, i-Nager's acrofacial dysostosis kunye ne-Millers's syndrome, njengoko zibonisa iimpawu ezifanayo.

Iimpawu ezinokwenzeka

Iimpawu zikaTreacher Collins syndrome zibandakanya:

• Amehlo amnyama, umlomo ocacileyo okanye uphahla lomlomo;
• Iindlebe ezincinci kakhulu okanye ezingekhoyo;
• Ukungabikho kweenkophe;
• Ukuphulukana nendlebe;
• Ukungabikho kwamathambo obuso, anjengee-cheekbones kunye nemihlathi;
• Kunzima ukuhlafuna;
• Iingxaki zokuphefumla.

Ngenxa yokukhubazeka okubonakalayo okubangelwa sesi sifo, iimpawu zengqondo zinokuvela, ezinje ngoxinzelelo kunye nokucaphuka, ezibonakala ngokuhlukileyo kwaye zinokusonjululwa ngonyango lwengqondo.

Unyango lwenziwa njani

Unyango kufuneka lwenziwe ngokweempawu kunye neemfuno ezithile zomntu ngamnye, kwaye nangona kungekho nyango lwesi sifo, ungenziwa uqhaqho ukuze kulungiswe amathambo obuso, kuphuculwe ubuhle kunye nokusebenza kwamalungu kunye nemizwa .

Ukongeza, unyango lwesi sifo lukwanokuphucula iingxaki zokuphefumla kunye neengxaki zokondla ezenzeka ngenxa yokukhubazeka ebusweni kunye nokuphazamiseka kolwimi ngolwimi.

Ke, kunokuba yimfuneko ukwenza i-tracheostomy, ukugcina indlela yomoya eyoneleyo, okanye i-gastrostomy, eya kuthi iqinisekise ngokufumana ikhalori elungileyo.

Kwiimeko zokulahlekelwa kukuva, ukuxilongwa kubaluleke kakhulu, ukuze kulungiswe ngokusetyenziswa kwamalungu okufakelwa okanye uqhaqho, umzekelo.

Iseshoni yonyango lokuthetha nayo ingabonakaliswa ukuphucula unxibelelwano lomntwana kunye noncedo kwinkqubo yokuginya nokuhlafuna.