I-Stickler syndrome yinto engabonakaliyo yefa okanye imfuyo echaphazela izicubu ezinxulumene nomzimba. Ngokukodwa, abantu abane-Stickler syndrome ngokuqhelekileyo banokuguqulwa kwimizimba yezityalo ezivelisa i-collagen. Ezi zintshintsho zentsholongwane zingabangela ezinye okanye zonke iziganeko ezilandelayo ze-Stickler syndrome:
- Iingxaki zamehlo - kubandakanywa nokungaboni kakuhle, ukuguqulwa kwamanzi, i- glaucoma , i- cataracts , kunye nezikhokelo zokubuyisela okanye i-detachment. Kwezinye iimeko, iingxaki zamehlo ezinxulumene ne-Stickler Syndrome zingakhokelela ekuphoseni.
- Ukungaqhelekanga kwindlebe ephakathi enokubangela ukulahlekelwa kwindlebe edibeneyo, yokuqonda okanye yokuqhuba ukuva, izifo zendlebe eziphindaphindiweyo , iindlebe ezikwindlebe okanye ukuhamba kwamathambo endlebe.
- Izifo ezingaqhelekanga ziquka umqolo osisigxina (i-scoliosis okanye i-kyphosis), amajoyina angama-mobile, ukuqala kwe-arthritis, ukukhubazeka kwesifuba, ukuphazamiseka kwesifuba sobuntwaneni (okubizwa ngokuba yi-Legg-Calve-Perthe's disease), kunye neengxaki ezidibeneyo ezihlangeneyo.
- Abantu abathile abane-Stickler syndrome banokuba neemeko eziphezulu ze-mitral valve kubonakala kunabantu bonke, ngokutsho kophando oluthile.
- Amazinyo angabonakaliyo kubandakanya indawo ye-malocclusion.
- Ukubonakala kwamehlo atyhidiweyo ngezinye iinkcukacha ngokubhekiswa ngokulandelelana kukaParob Robin. Oku kufuthi kubandakanye iimpawu ezinjenge- palate palate , i-bifid uvula, i-palate ephakamileyo ephezulu, ulwimi olulandelayo emva kwexesha eliqhelekileyo, i-chin shortened, kunye nomhlathi omncinane osezantsi. Ngokuxhomekeke kubunzima bezinto ezibonakalayo (ezo zihluka ngokubanzi phakathi kwabantu), le miqathango ingakhokelela kwiingxaki zokusondeza, ingakumbi ngexesha lokusana.
- Ezinye iinkalo zingabandakanya i- hypertonia , iinyawo ezicwangcisiweyo kunye neminwe ende.
I-Stickler syndrome iyafana neemeko ezinxulumene nezibizwa ngokuba yi-Marshall syndrome, nangona abantu abane-Marshall syndrome bavame ukuba nesigxina esifutshane kunye neempawu ezininzi ze-Stickler syndrome. I-Stickler syndrome iyahlula kwiintlobo ezincinci ezinhlanu kuxhomekeka kwiziphi iimpawu ezikhankanywe ngaphambili.
Iimpawu kunye nobunzima ziyahlukahluka phakathi kwabantu abaneS Stickler syndrome nakwiintsapho ezifanayo.
Izizathu
Iziganeko ze-Stickler syndrome ziqikelelwa ukuba zi-1 kwi-7,500 zokuzalwa. Nangona kunjalo, le meko ikholelwa ukuba ayifumananga. I-Stickler syndrome idluliselwa kubazali kubantwana kwi-autosomal pattern. Umngcipheko womzali nge-Stickler syndrome edlulisa imeko kumntwana i-50 ekhulwini nganye yokukhulelwa. I-Stickler syndrome ivela kubini abesilisa nabesifazana.
Ukuxilongwa
I-Stickler syndrome inokukrokra ukuba unayo impawu okanye iimpawu zesi sifo, ngakumbi ukuba umntu ohlala kwintsapho yakho ufunyaniswe ukuba ene-Stickler syndrome. Ukuvavanya i-Genetic kunokunceda ekufumaneni i-Stickler syndrome kodwa okwangoku akukho mqathango oqhelekileyo wokuxilongwa owenziwe ngumbutho wezonyango.
Unyango
Akukho naluphi unyango lwe-Stickler syndrome kodwa unyango oluninzi kunye nezokwelapha zikhoyo ekulawuleni iimpawu ze-Stickler syndrome. Ukuqaphela kwangaphambili okanye ukuxilongwa kwe-Stickler syndrome kubalulekile ukwenzela ukuba iimeko ezinxulumene nazo zihlolwe kwaye ziphathwe ngokukhawuleza. Ukulungiswa kobuso bokungaqhelekanga njengokwenza i-palate i-palate ingafuneka ukuba uncede ngokutya nokuphefumla.
Iilensi zokulungisa okanye utyando lunokuba luncedo ekuphatheni iingxaki zamehlo. Izixhobo zokuvalelwa okanye iinkqubo zokugqirha ezifana nokufakwa kwamathambo e-umoya angalungisa okanye aphathe iingxaki zeendlebe. Maxa wambi amayeza anxamnye nokuvuvukala angakunceda ekuphatheni i-arthritis okanye iingxaki ezidibeneyo, kwiimeko ezinzima ukufakwa endaweni yamathambo kunokufuneka.
Imithombo:
I-Reference Reference Home. Stickler Syndrome. https://ghr.nlm.nih.gov/condition/stickler-syndrome
IMarfan Foundation. Stickler Syndrome. https://www.marfan.org/stickler-syndrome.
I-National Organisation for Distress Disorders. Stickler Syndrome. http://rarediseases.org/rare-diseases/stickler-syndrome/.