Izici ezibonakalayo ezibonakalayo ziyiHholo lokuHlelwa kwezifo ezinzima
I-Cornelia de Lange syndrome (i-CDLS), eyaziwa nangokuthi i-Bachmann-de-Lange syndrome, isifo esiwumzimba esenza ukuba kube khona ukubonakala okuhlukile okuvela ekuzalweni. Lesi sifo singathinta izingxenye eziningi zomzimba kanye nobubanzi obuvela komnene kuya obunzima. I-CDLS ingazuzwa njengefa; Kodwa-ke, amacala amaningi abangelwa ukushintshwa okusha.
Kuze kube manje, i-CDLS ixhunyaniswe nezinguquko ezakhiweni ze-NIPBL, SMC1A, HDAC8, RAD21, nama-SMC3.
Amacala amaningi asuka ekuguqulweni kwegciwane le-NIPBL. Amaphesenti angaba ngu-30 amacala awahlobene nanoma iyiphi yalezi zinguquko ezifuywayo. Isimo silinganiselwa ukuthi sithinta noma yikuphi kusuka ku-1 ku-10 000 kuya ku-30,000 amantana. Abantu abaningi bangase babe nesimo njengoba amacala amancane angase ahambe angatholakali. Ama-CDLS angatholakala ngokuqinisekisiwe ngokuhlolwa kofuzo.
Izimpawu zomzimba ezihlukanisiwe
Izimpawu eziningi ze-Cornelia de Lange syndrome zikhona lapho zizalwa. Abantu abaneCDLS banezici zobuso ezithile ezifana nalokhu:
- Amashiya ahlanganisiwe avela ahlaselwe futhi ahlongozwa kahle (amaphesenti angu-99 wamacala)
- Ama-eyelashes ama-long curly (amaphesenti angu-99 wamacala)
- Izindiza ze-front kanye ne-back (amaphesenti angu-92 amacala)
- Ikhala elivuliwe (amaphesenti angu-88 wamacala)
- Ama-angles aphansi aphuma emlonyeni kanye nezindebe ezincane (amacala angu-94 amacala)
- Umhlathi omncane ophansi kanye / noma umhlathi ongaphezulu (amaphesenti angu-84 wamacala)
- I-flaft palate
Okunye okungajwayelekile ngokomzimba okungahle kube khona noma kungabi khona lapho kuzalwa kuhlanganisa:
- Inhloko encane kakhulu (microcephaly) (amaphesenti angu-98 amacala)
- Izinkinga zamehlo nezombono (amacala angu-50 amacala)
- Izinwele zomzimba ezidlulele ngokweqile, okungase zibe mncane njengoba ingane ikhula (amaphesenti angu-78 amacala)
- Intamo emfushane (amacala angu-66 wamacala)
- Yenza izinto ezingavamile ezifana neminwe elahlekile, izandla ezincane kakhulu, kanye / noma ukuphambana kwangaphakathi kweminwe e-pinky
- Izinkinga zezinhliziyo
Izinsana ezine-Cornelia de Lange syndrome ngokuvamile zizalwa ezincane, ngezinye izikhathi ngaphambi kwesikhathi. Labo abathintekayo bangase babe nemisipha enzima kakhulu, bakhathazeke ngokudla, bese bekhala kancane, bekhala. Izingane ezineCDLS zingase zibe ne-reflux ye-gastroesophageal kanye nokuhlukunyezwa.
Ulimi kanye nezinkinga zokuziphatha
Izinsana ezine-Cornelia de Lange syndrome azivezi ngokushesha njengezinye izingane. Abaningi banokukhutshazeka kwengqondo okunciphisa noma okulinganiselayo, kodwa abanye bangakhubazeka kakhulu (ngebanga le-IQ lika-30 kuya ku-85). Ngenxa yezinkinga ngomlomo wabo, ukuzwa, nokuthuthukiswa, abantwana abaneCDLS bavame ukukhuluma kamuva kunontanga yabo.
Izinkinga zokuziphatha ezinganeni ze-CDLS zingabandakanya ukungabi nokuzilimaza, ukuzilimaza, ukuhlukunyezwa, nokuphazamiseka kokulala. Lezi zingane zingase zibonakale zine- autism-like syndrome ngenxa yekhono elinciphile lokuxhumana nabanye abantu, ukuziphatha okuphindaphindiwe, ubunzima bokubonakalisa ubuso, nokulibazisa ulimi.
Ukwelapha i-CDLS
Ukwelashwa kugxile ekubhekaneni nezimpawu ze-CDLS ukuze labo abathintekayo bangabangela ukuphila okuvamile. Izinsana zizuza ngezinhlelo zokusungula zakuqala zokuthuthukisa ithoni ye-muscle, ukulawula izinkinga zokudla, nokuthuthukiswa kwamakhono amakhono. Ochwepheshe bezempilo yengqondo bangasiza ukuphatha izimpawu zokuziphatha zalesi simo.
Izingane zingase futhi zidinga ukubona izazi ze-cardiologists noma i-ophthalmologists ngezinkinga zenhliziyo nezeso. Ukulindeleka kokuphila kuyinto evamile uma ingane ingenayo izimo ezingavamile zangaphakathi ezifana nokukhubazeka kwenhliziyo.
Umthombo:
I-Tekin, M. (2015). I-Cornelia de Lange Syndrome. eMedicine.