Ukukhubazeka kokuzalwa kweNtloko, ubuso kunye neenyawo
I-Jackson-Weiss syndrome yintlupheko yezofuzo ezibangelwa yiinguqu kwi-FGFR2 ye-gene kwi-chromosome 10. Yenza ukuba kubekho ukukhubazeka kokuzalwa kwentloko, ubuso kunye neenyawo. Ayaziwa ukuba kaninzi kangakanani i-Jackson-Weiss syndrome, kodwa abanye abantu ngabokuqala kwiintsapho zabo ukuba babe ne-disorder, ngelixa abanye bazuza iinguqu zokuguqula izityalo ngendlela ephezulu .
Iimpawu
Ekuzalweni, amathambo enkayi ayihlanganisiwe; Bavala xa umntwana ekhula. Kwi-Jackson-Weiss syndrome, amathambo enkoma adibanisa (fuse) kusasa. Oku kubizwa ngokuthi "i-craniosynostosis." Oku kubangela:
- i-misshapen skull
- amehlo ahlukeneyo
- ebunzini
- indawo esingaqhelekanga, kwindawo engabonakaliyo ebusweni (ubuso be-hypoplasia)
Elinye iqela elihlukileyo lokukhubazeka ekuzalweni kwi-Jackson-Weiss syndrome lisezinyaweni:
- iinzwane ezinkulu zifutshane kwaye zibanzi
- iinzwane ezinkulu ziguqa kwezinye izwane
- amathambo ezinzwane ezithile zingabanjiswa ndawonye (ebizwa ngokuthi "i-syndactyly") okanye ngokusemgangathweni
Abantu abanesifo sikaJackson-Weiss baqheleke ngezandla eziqhelekileyo, ubunzima obuqhelekileyo kunye nobomi obuqhelekileyo.
Ukuxilongwa
Ukuxilongwa kwe-Jackson-Weiss syndrome kusekelwe kwiingxaki zokuzalwa ezikhoyo. Kukho amanye ama-syndromes afaka i-craniosynostosis, efana neCrouzon syndrome okanye i-Apert syndrome, kodwa unyawo olungaqhelekanga lunceda ukwahlula i-Jackson-Weiss syndrome.
Ukuba kukho ukungathandabuzeki, ukuhlolwa kofuzo kungenziwa ukuze kuncedise ukuxilongwa.
Unyango
Ezinye zeziphene zokuzalwa ezikhoyo kwi-Jackson-Weiss syndrome zinokulungiswa okanye zinciphise ngokuhlinzwa. Unyango lwe-craniosynostosis kunye nokungaqhelekanga kweso siqhele ukuphathwa ngamagqirha kunye nabagqirha abaxhomekeke kwiintlobo zeentloko kunye neentamo (iingcali ze-craniofacial).
La maqela eengcali ahlala esetyenziswa kwiziko elikhethekileyo le-craniofacial okanye kwiklinikhi. I-National Craniofacial Association ineenkcukacha zoqhagamshelwano kunye neenkampani zezokwelapha ze-craniofacial kwaye zinika inkxaso yezemali ngeendleko ezingekho phantsi kwemimiselo yabantu abahamba kwiziko lokunyanga.
Imithombo:
> Wulfsberg, uEric. "Jackson-Weiss Syndrome." CCDD Education Family. 26 Jan 2004. uJohn Hopkins Medicine.
> "Jackson-Weiss Syndrome." Index of the Rare Diseases. I-National Organisation for Distress Disorders.
> "Jackson-Weiss Syndrome." I-Reference Reference Home. 2 Meyi 2008. ILebhu yeSizwe yeMatriki ka-US.
> Van Buggenhout, G., & JP Fryns. "Jackson-Weiss Syndrome." NgoJulayi 2005. i-Orphanet Encyclopedia.