Izinkinga Zokuzalwa Zenhloko, Ubuso, Nezinyawo
I-Jackson-Weiss syndrome yisifo esiwumzimba esibangelwa ukuguqulwa kwesigqi seFGFR2 ku-chromosome 10. Sibangela ukukhubazeka okuhlukile kokuzalwa kwekhanda, ubuso nezinyawo. Ayaziwa ukuthi kwenzeka kanjani ukuthi i-Jackson-Weiss syndrome ivele, kodwa abanye abantu bangabokuqala emindenini yabo ukuba banenkinga, kuyilapho abanye bezuza igugu lokuguqula izakhi ngendlela engavamile .
Izimpawu
Ekuzalweni, amathambo e-skull awahlanganisiwe; bavala lapho umntwana ekhula. E-Jackson-Weiss syndrome, amathambo e-skull ahlangene ndawonye (fuse) ekuseni kakhulu. Lokhu kubizwa ngokuthi "i-craniosynostosis." Lokhu kubangela:
- i-misshapen skull
- amehlo ahlukene kakhulu
- isikhwama esiphezulu
- indawo engavamile, indawo engaphakathi engapheliyo ebusweni (i-middleface hypoplasia)
Elinye iqembu elihlukile lokukhubazeka kokuzalwa ku-Jackson-Weiss syndrome lisezinyaweni:
- izinzwane ezinkulu zincane futhi zibanzi
- izinzwane ezinkulu nazo ziguqa kwezinye izinzwane
- amathambo ezinzwane ezithile angahlanganiswa ndawonye (okuthiwa "syndactyly") noma ngendlela engavamile
Abantu abaneJackson-Weiss syndrome bavame ukuba nezandla ezijwayelekile, ukuhlakanipha okujwayelekile, nokuphila okuvamile.
Ukuxilongwa
Ukuxilongwa kwe-Jackson-Weiss syndrome kusekelwe ekutheni ukukhubazeka okukhona manje. Kunamanye ama-syndromes afaka phakathi i-craniosynostosis, njenge-Crouzon syndrome noma i-Apert syndrome, kodwa izinyathelo ezingezansi zisiza ukuhlukanisa i-Jackson-Weiss syndrome.
Uma kukhona ukungabaza, ukuhlolwa kofuzo kungenziwa ukuze kusize ukuqinisekisa ukuxilongwa.
Ukwelapha
Ezinye zeziphambeko zokuzalwa ezikhona ku-Jackson-Weiss syndrome zingalungiswa noma zinciphise ngokuhlinzwa. Ukwelashwa kwe-craniosynostosis nokukhubazeka kokubukeka kuvame ukwelashwa odokotela nabahlinzeki abasebenza ngokukhethekile emakhanda nasezintweni (ochwepheshe be-craniofacial).
La maqembu ochwepheshe ngokuvamile asebenza esikhungweni esikhethekile se-craniofacial noma emtholampilo. I-National Craniofacial Association inolwazi lokuthintana namathimba wezokwelashwa ezikhulayo futhi linikeza nokusekelwa ngezezimali izindleko ezingekho emthethweni zabantu abaya esikhungweni sokwelashwa.
Imithombo:
> Wulfsberg, u-Eric. "Jackson-Weiss Syndrome." I-CCDD Education Family. 26 Jan 2004. Johns Hopkins Medicine.
> "Jackson-Weiss Syndrome." Inkomba yezifo ezinzima. Inhlangano Kazwelonke Yezinkinga Ezinzima.
> "Jackson-Weiss Syndrome." I-Genetics Home Reference. 2 Meyi 2008. I-US National Library of Medicine.
> Van Buggenhout, G., & JP Fryns. "Jackson-Weiss Syndrome." July 2005. i-Orphanet Encyclopedia.