Kukanganisa Kuberekwa Kwemusoro, Maziso, uye Maziso
Jackson-Weiss syndrome chirwere chinokonzerwa nehutachiona hunokonzerwa nekuchinja kwemuviri weFGFR2 pane chromosome 10. Unokonzera kukanganisa kuberekwa kwemawere, musoro, uye tsoka. Hazvizivikanwe kuti kakawanda Jackson-Weiss syndrome inowanikwa sei, asi vamwe vanhu ndivo vokutanga mumhuri dzavo kuti vave nechirwere ichi, asi vamwe vanogara nhaka yean genetic mutation muzvigadziro zvakanyanya .
Zviratidzo
Pakuberekwa, mapfupa edehenya haana kubatana pamwechete; vanovhara apo mwana achiri kukura. MuJackson-Weiss syndrome, mapfupa ebhuka akabatana pamwe (fuse) zvakare kare. Izvi zvinonzi "craniosynostosis." Izvi zvinokonzera:
- misshapen skull
- zvakaparadzaniswa maziso
- kupfugama kwehuma
- asinganzwisisiki zvakadzikama, asina kusimbiswa pakati pechiso (mukati meimba hypoplasia)
Rimwe boka rakasiyana-siyana rekuremara kwekuberekwa mu Jackson-Weiss syndrome riri mumakumbo:
- zvigunwe zviduku zviduku uye zvakapararira
- zvigunwe zvikuru zvekare zvinonamatira kubva kune dzimwe zvigunwe
- mapfupa ezvimwe zvigunwe zvingave akabatanidzwa pamwe chete (anonzi "syndactyly") kana asina kufanana
Vanhu vane Jackson-Weiss syndrome vanowanzova nemaoko akazara, kuchenjera kwemazuva ese, uye hupenyu huripo.
Kuziva
Kuongororwa kweJackson-Weiss syndrome kunobva pakukanganisa kuberekwa ikozvino. Kune zvimwe zvirwere zvinosanganisira craniosynostosis, zvakadai seCrouzon syndrome kana Apert syndrome, asi rutsoka rwakakosha runobatsira kusiyanisa Jackson-Weiss syndrome.
Kana paine kusava nechokwadi, chiyero chemazwi chinogona kuitwa kuti chibatsire kusimbisa kuongororwa.
Kurapa
Mamwe ekuremara kwekuberekwa aripo mu Jackson-Weiss syndrome anogona kugadziriswa kana kuderedzwa nekuvhiyiwa. Kurapa kwekristaniynostosis uye kusasvibisa kwepiso kunowanzobatwa navanachiremba uye vanachiremba vanonyanya kugadzirisa musoro nemutsipa (nyanzvi dzecaniofacial).
Aya mapoka evarapi anowanzoshanda mune imwe nzvimbo inokosha yekrisofacial centre kana kliniki. I National Craniofacial Association ine ruzivo rwekukurukurirana kune makambani ekurapa madiki uye inopawo rubatsiro rwezvemari kune zvisingabhadharwi mari yevanhu vanoenda kunzvimbo yekurapa.
Sources:
> Wulfsberg, Eric. "Jackson-Weiss Syndrome." CCDD Family Education. 26 Jan 2004. Johns Hopkins Medicine.
> "Jackson-Weiss Syndrome." Index of Rare Diseases. National Organisation for Rare Disorders.
> "Jackson-Weiss Syndrome." Genetics Home Reference. 2 May 2008. US National Library yeMishonga.
> Van Buggenhout, G., & JP Frys. "Jackson-Weiss Syndrome." July 2005. Orphanet Encyclopedia.