Raunin Haihuwa na Shugaban, Da fuska, da Feet
Jackson-Weiss ciwo ne cututtukan kwayoyin cutar da aka haifar da maye gurbin a cikin jigidar FGFR2 akan chromosome 10. Yana haifar da lahani na musamman na kai, fuska, da ƙafa. Ba'a sani ba sau da yawa cutar ciwon Jackson-Weiss ya faru, amma wasu mutane ne na farko a cikin iyalansu suna da cutar, yayin da wasu suka gaji maye gurbin su a cikin maɗaukaki .
Cutar cututtuka
A lokacin haihuwa, ƙasusuwan kwanyar ba a haɗa su ba; suna rufe kamar yadda yaron ya girma. A cikin Jackson-Weiss ciwo, ƙusoshin kafafun sun hada tare (fuse) da wuri. Wannan ake kira "craniosynostosis." Wannan yana haifar da:
- kuskuren misshapen
- yadu da idanu
- bulla goshin
- Ƙananan lebur, underdeveloped tsakiyar yankin na fuskar (midface hypoplasia)
Wani rukuni dabam dabam na lalacewa na haihuwa a Jackson-Weiss ciwo yana cikin ƙafafun:
- manyan yatsun suna takaice kuma suna da faɗi
- da manyan yatsun kafa kuma suna lankwasawa daga wasu yatsun kafa
- kasusuwa da wasu yatsun kafa zasu iya haɗuwa tare (wanda ake kira "mahaukaci") ko wanda aka haifa
Mutanen da ke tare da ciwon Jackson-Weiss suna da hannaye na al'ada, basira na al'ada, da kuma na yau da kullum.
Sanin asali
Sakamakon ganewar cutar Jackson-Weiss yana dogara ne akan lalacewar haihuwa yanzu. Akwai wasu cututtuka da suka haɗa da craniosynostosis, irin su ciwo Crouzon ko rashin ciwo, amma ƙananan ƙarancin zai taimaka wajen gane bambancin Jackson-Weiss.
Idan akwai shakka, za a iya gwada gwajin kwayoyin don taimakawa tabbatar da ganewar asali.
Jiyya
Wasu daga cikin lahani na haihuwa da ke cikin Jackson-Weiss ciwo za a iya gyara ko rage ta ta tiyata. Yin jiyya na craniosynostosis da kuma maganganun gyaran fuska mafi yawanci ana bi da su da likitoci da masu kwantar da hankali waɗanda suka kware a cikin rikici da kuma wuyan wuyan (masanan craniofacial).
Wadannan kungiyoyin kwararru sukan yi aiki a wani ɗaki na musamman na craniofacial ko asibitin. Ƙungiyar Craniofacial ta Ƙungiyar ta Ƙasar tana da bayanin tuntuɓa ga ƙungiyoyin kiwon lafiya na craniofacial kuma yana bayar da tallafi na kudi don ba da kudi na mutane masu tafiya zuwa cibiyar don maganin magani.
Sources:
> Wulfsberg, Eric. "Jackson-Weiss Syndrome." Cibiyar Harkokin Gida ta CCDD. 26 Jan 2004. Medicine Johns Hopkins.
> "Jackson-Weiss Syndrome." Rahoton Raunuka Rare. Ƙungiyar Ƙungiyar Ƙananan Raunuka.
> "Jackson-Weiss Syndrome." Ma'anar Gidajen Genetics. 2 Mayu 2008. Cibiyar Siyasa Kimiyya ta Amirka.
> Van Buggenhout, G., & JP Fryns. "Jackson-Weiss Syndrome." Yuli 2005. Orphanet Encyclopedia.