Kulephera kwa Kubadwa kwa Mutu, Maso, ndi Mapazi
Matenda a Jackson-Weiss ndi matenda omwe amachititsa kusintha kwa jini la FGFR2 pa chromosome 10. Imayambitsa zolepheretsa kubadwa kwa mutu, nkhope, ndi mapazi. Sikudziwika kuti nthawi zambiri Jackson-Weiss matenda amapezeka, koma anthu ena ndiwo amodzi mwa mabanja awo kuti ali ndi matendawa, pamene ena amachokera kusintha kwa chibadwa mwa njira ya autosomal .
Zizindikiro
Pa kubadwa, mafupa a chigaza sagwirizanitsidwa palimodzi; iwo amatseka pamene mwana akukula. Mu matenda a Jackson-Weiss, mafupa a magazi amalumikizana pamodzi (fuse) molawirira kwambiri. Izi zimatchedwa "craniosynostosis." Izi zimayambitsa:
- misechepen mutu
- maso ochuluka kwambiri
- kupukusa mutu
- malo osasinthasintha, osasinthasintha kwambiri a nkhope (nkhope hypoplasia)
Gulu lina losiyana la kubala kwa Jackson-Weiss matenda ali pamapazi:
- zala zazikulu zazing'ono ndizitali
- Zowalala zazikuluzikulu zimapewedwanso ndi zala zala zina
- mafupa a zala zazing'ono akhoza kuphatikizidwa palimodzi (kutchedwa "syndactyly") kapena zosaoneka mofanana
Anthu omwe ali ndi matenda a Jackson-Weiss kaŵirikaŵiri amakhala ndi manja abwino, nzeru zenizeni, ndi moyo wamba.
Kudziwa
Kuzindikira kwa matenda a Jackson-Weiss kumachokera ku zilema zoberekera. Pali syndromes zina zomwe zimaphatikizapo craniosynostosis, monga Crouzon syndrome kapena Apert syndrome, koma phazi lopanda phazi limathandiza kusiyanitsa matenda a Jackson-Weiss.
Ngati palibe kukayikira, mayesero achibadwa angapangidwe kuti athandizidwe kuti atsimikizidwe.
Chithandizo
Zina mwa zofooka zomwe zilipo mu Jackson-Weiss matenda zimatha kukonzedwa kapena kuchepetsedwa ndi opaleshoni. Chithandizo cha matenda a craniosynostosis ndi nkhope zosaoneka kawirikawiri amachiritsidwa ndi madokotala ndi opaleshoni omwe amadziwika kwambiri ndi matenda a mutu ndi a mitsempha (akatswiri a craniofacial).
Magulu a akatswiriwa nthawi zambiri amagwira ntchito yapadera kapena kliniki yapadera. Gulu la National Craniofacial Association lili ndi mauthenga okhudzana ndi magulu a zachipatala a craniofacial komanso amapereka ndalama zothandizira anthu omwe akupita kuchipatala kuchipatala.
Zotsatira:
> Wulfsberg, Eric. "Jackson-Weiss Syndrome." CCDD Family Education. 26 Jan 2004. Johns Hopkins Medicine.
> "Jackson-Weiss Syndrome." Mndandanda wa Zachilombo Zambiri. National Organisation for Disorder Disorders.
> "Jackson-Weiss Syndrome." Zolemba za Kunyumba za Genetics. 2 May 2008. Laibulale ya National Medicine ya US.
> Van Buggenhout, G., & JP Frys. "Jackson-Weiss Syndrome." July 2005. Orphanet Encyclopedia.