Iimpawu zobuso eziqhelekileyo yiHolomark yale Ntsholongwane
I-Cornelia de Lange syndrome (i-CDLS), eyaziwa nangokuthi i-Bachmann-de-Lange syndrome, yintlupheko yemfuza eyenza imbonakalo ebonakalayo ekhoyo ukusuka ekuzalweni. Isifo sinokuchaphazela amalungu amaninzi emzimbeni kunye nemigangatho esuka kumncinci ukuya kunzima. ICDLS zinokufumana ilifa; Nangona kunjalo, ezininzi iimeko zibangelwa utshintsho olutsha.
Okwangoku, ii-CDLS zidibaniswe nezinguquko kwi-NIPBL, SMC1A, HDAC8, RAD21, kunye ne-SMC3.
Uninzi lweziganeko zibangelwa ziinguqu kwi-gene NIPBL. Phantse ama-30 ekhulwini amatyala awahambelani naluphi na olu luguqulo lwemizimba. Iimeko ziqikelelwa ukuba zichaphazele naphi na ukusuka kwi-1 ukuya kwi-30 000 ezelwe iintsana ezingama-30 000. Abantu abaninzi banokuba neemeko ezinjengeemeko ezincinci ezingenakunikwa. Ii-CDLS zinokuthi zifumaneke ngokuqinisekileyo ngokuhlolwa kofuzo.
Impawu eziPhezulu zoMzimba
Uninzi lweempawu ze-Cornelia de Lange syndrome zikhoyo xa zizalwa. Abantu abaneCDLS baneenkalo zobuso ezithile ezifana:
- Amacwecwe ahlanganisiweyo avela echanekileyo kwaye achazwe kakuhle (ama-99 ekhulwini amatyala)
- Eyelashes emide curly (ama-99 ekhulwini amatyala)
- Iinqwelo-moya eziphantsi nangaphambili (ama-92 ekhulwini amatyala)
- Impumlo ephendukile (ipesenti ezingama-88 zamatyala)
- Iimpembelelo ezijikelezayo eziphantsi komlomo kunye nemilomo emilenze (ama-94 ekhulwini amatyala)
- Umhlathi omncinci omncinane kunye / okanye umlenze ophezulu ongaphantsi (ama-84 ekhulwini amatyala)
- I-Cleft palate
Ezinye izinto ezingaqhelekanga ezinokuthi zingabi khona okanye zingabi khona ngexesha lokuzalwa ziquka:
- Intloko encinci (i-microcephaly) (ipesenti ezingama-98 zamatyala)
- Iingxaki zamehlo nezembono (ama-50 ekhulwini amatyala)
- Izinwele zomzimba ezigqithiseleyo, ezinokuthi zincipha njengoko umntwana ekhula (iipesenti ezingama-78 zeemeko)
- Intamo emfutshane (ama-66 ekhulwini amatyala)
- Ukunikezela ngokungaqhelekanga njengeminwe elahlekileyo, izandla ezincinci, kunye / okanye ukuphambuka kwangaphakathi kweminwe e-piny
- Iintsilelo zeentliziyo
Iintsana kunye ne-Cornelia de Lange syndrome zizalwa ngokuncinci, ngamanye amaxesha zingekafiki. Abo bachaphazelekayo banokuba nemisipha eninzi, ukuxhalabisa, kunye nokukhala okuphantsi, ukukhala. Abantwana abanama-CDLS banokuba ne-reflux ye-gastroesophageal kunye nokutshatyalaliswa.
Iilwimi kunye neengxaki zokuziphatha
Iintsana kunye ne-Cornelia de Lange syndrome aziqhubeki ngokukhawuleza njengabanye abantwana. Abaninzi banokukhubazeka kwengqondo emancinci kuya kuyingqinisiso, kodwa abanye banokukhubazeka kakhulu (kunye nodidi lwe-IQ lwama-30 ukuya ku-85). Ngenxa yeengxaki ngemilomo yabo, ukuva, nophuhliso, abantwana abaneCDLS bahlala beqala ukuthetha kamva kunontanga yabo.
Ingxaki yokuziphatha kubantwana abaneCDLS ingaquka ukuxhatshazeka, ukuzilimaza, ukuxhatshazwa, nokuphazamiseka kokulala. Aba bantwana banokubonakala ngathi bane- autism-like syndrome ngenxa yokunciphisa ukuxhamla nabanye abantu, ukuziphatha okuphindaphindiweyo, ubunzima bokubonakalisa ubuso, kunye nokulibaziseka kweelwimi.
Ukunyanga iCDLS
Uphulo lujolise ekujonganeni neempawu zeCDLS ukwenzela ukuba abachaphazelekayo bangakhokelela ubomi obuqhelekileyo. Iintsana ziyazuza kwiinkqubo zokungenelela kwangaphambili ekuphuculeni ithoni ye-muscle, ukulawula iingxaki zokutya, nokuphuhlisa izakhono ezifanelekileyo zezithuthi. Iingcali zempilo yengqondo zinokukunceda ukulawula iimpawu zokuziphatha zalo mqathango.
Abantwana nabo banokufuna ukubona i-cardiologists okanye i-ophthalmologists kwiintliziyo neengxaki zamehlo. Ukulindeleka kobomi kuyinto eqhelekileyo xa umntwana engenazo iimeko ezingalunganga zangaphakathi ezinjengeentsilelo zeentliziyo.
Umthombo:
Tekin, M. (2015). I-Cornelia de Lange Syndrome. eMedicine.